#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
SLC22A23	63027	genome.wustl.edu	37	6	3287325	3287325	+	Splice_Site	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:3287325C>G	ENST00000406686.3	-	7	1313	c.1314G>C	c.(1312-1314)tcG>tcC	p.S438S	SLC22A23_ENST00000490273.1_Splice_Site_p.S157S|SLC22A23_ENST00000380302.4_Splice_Site_p.S157S|SLC22A23_ENST00000436008.2_Splice_Site_p.S438S|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	438					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ACCCCGTCAGCCTGTGGAGAC	0.612																																																0			6											81.0	61.0	68.0					6																	3287325		2203	4300	6503	3232324	SO:0001630	splice_region_variant	63027			AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1314-1G>C	6.37:g.3287325C>G			3232324	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Silent	SNP	superfamily_MFS_gen_substrate_transporter	p.S157	ENST00000406686.3	37	c.471	CCDS47363.1	6																																																																																			-	superfamily_MFS_gen_substrate_transporter		0.612	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	SLC22A23	protein_coding	OTTHUMT00000353059.1	C	NM_021945	Silent	3232324	-1	no_errors	NM_021945	genbank	human	validated	54_36p	silent	SNP	1.000	G
OR1E1	8387	genome.wustl.edu	37	17	3301658	3301658	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:3301658C>T	ENST00000322608.2	-	1	46	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	16					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						GATGGGCAGGCCCAGGAGCAG	0.468																																																0			17											57.0	60.0	59.0					17																	3301658		2203	4296	6499	3248408	SO:0001583	missense	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.47G>A	17.37:g.3301658C>T	ENSP00000313384:p.Gly16Asp		3248408	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.G16D	ENST00000322608.2	37	c.47	CCDS11024.1	17	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741776	0.69304	.	.	ENSG00000180016	ENST00000322608	T	0.00655	5.95	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000007	T	0.06554	0.0168	H	0.94222	3.51	0.44694	D	0.997685	D	0.71674	0.998	D	0.74348	0.983	T	0.00304	-1.1832	10	0.87932	D	0	.	12.4688	0.55775	0.0:0.8298:0.1702:0.0	.	16	P30953	OR1E1_HUMAN	D	16	ENSP00000313384:G16D	ENSP00000313384:G16D	G	-	2	0	OR1E1	3248408	0.920000	0.31207	0.998000	0.56505	0.943000	0.58893	2.792000	0.47837	2.285000	0.76669	0.558000	0.71614	GGC	-	superfamily_SSF81321		0.468	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	protein_coding	OTTHUMT00000207303.1	C	NM_003553		3248408	-1	no_errors	NM_003553	genbank	human	validated	54_36p	missense	SNP	0.912	T
ALOX15	246	genome.wustl.edu	37	17	4541927	4541927	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:4541927C>A	ENST00000570836.1	-	6	691	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	ALOX15_ENST00000293761.3_Missense_Mutation_p.D199Y|ALOX15_ENST00000545513.1_Missense_Mutation_p.D221Y|ALOX15_ENST00000574640.1_Missense_Mutation_p.D160Y			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	199	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TCATCTAGATCCTTCCAGCAA	0.547																																																0			17											69.0	69.0	69.0					17																	4541927		2203	4300	6503	4488676	SO:0001583	missense	246			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.595G>T	17.37:g.4541927C>A	ENSP00000458832:p.Asp199Tyr		4488676	A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2	p.D199Y	ENST00000570836.1	37	c.595	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771199	0.49680	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.77358	-1.09;-1.09	5.08	-4.61	0.03380	Lipoxygenase, C-terminal (3);	0.733508	0.12599	N	0.454860	T	0.68403	0.2997	L	0.49126	1.545	0.09310	N	1	P;P;P	0.41498	0.708;0.752;0.752	B;B;B	0.42593	0.381;0.392;0.392	T	0.63161	-0.6699	10	0.62326	D	0.03	1.1687	7.1819	0.25778	0.0:0.3294:0.1244:0.5462	.	221;160;199	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	Y	199;221	ENSP00000293761:D199Y;ENSP00000439855:D221Y	ENSP00000293761:D199Y	D	-	1	0	ALOX15	4488676	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	-1.426000	0.02443	-0.688000	0.05155	0.561000	0.74099	GAT	-	superfamily_Lipoxygenase,HMMPfam_Lipoxygenase		0.547	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	protein_coding	OTTHUMT00000207487.2	C			4488676	-1	no_errors	NM_001140	genbank	human	validated	54_36p	missense	SNP	0.134	A
C17orf107	100130311	genome.wustl.edu	37	17	4799853	4799853	+	5'Flank	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:4799853C>T	ENST00000381365.3	+	0	0				MINK1_ENST00000347992.7_Silent_p.L1220L|MINK1_ENST00000453408.3_Silent_p.L1229L|MINK1_ENST00000355280.6_Silent_p.L1249L|C17orf107_ENST00000521575.1_5'Flank	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						GGATGTGGTGCTGCAGTGGGG	0.637																																																0			17											88.0	94.0	92.0					17																	4799853		2184	4274	6458	4740629	SO:0001631	upstream_gene_variant	50488			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4799853C>T	Exception_encountered		4740629		Missense_Mutation	SNP	NULL	p.A1245V	ENST00000381365.3	37	c.3734	CCDS45591.1	17																																																																																			-	NULL		0.637	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINK1	protein_coding	OTTHUMT00000380556.1	C	NM_001145536		4740629	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_153827	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CYTH3	9265	genome.wustl.edu	37	7	6213339	6213339	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:6213339G>T	ENST00000350796.3	-	6	530	c.394C>A	c.(394-396)Caa>Aaa	p.Q132K	Y_RNA_ENST00000458975.1_RNA|CYTH3_ENST00000396741.2_5'Flank|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	132	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ACAAAGGCTTGAAGAACTTTA	0.373																																																0			7											88.0	87.0	87.0					7																	6213339		2203	4300	6503	6179864	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.394C>A	7.37:g.6213339G>T	ENSP00000297044:p.Gln132Lys		6179864	A4D2N8	Missense_Mutation	SNP	superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.Q132K	ENST00000350796.3	37	c.394	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728713	0.48833	.	.	ENSG00000008256	ENST00000350796	T	0.49720	0.77	5.71	4.83	0.62350	.	0.149712	0.64402	D	0.000009	T	0.27832	0.0685	N	0.05177	-0.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04607	-1.0939	10	0.27082	T	0.32	.	14.5668	0.68182	0.0703:0.0:0.9297:0.0	.	132	O43739-2	.	K	132	ENSP00000297044:Q132K	ENSP00000297044:Q132K	Q	-	1	0	CYTH3	6179864	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.675000	0.98638	1.408000	0.46895	0.655000	0.94253	CAA	-	superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222		0.373	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	protein_coding	OTTHUMT00000207396.2	G	NM_004227		6179864	-1	no_errors	NM_004227	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
IL33	90865	genome.wustl.edu	37	9	6253593	6253593	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:6253593A>T	ENST00000381434.3	+	5	524	c.511A>T	c.(511-513)Aat>Tat	p.N171Y	IL33_ENST00000456383.2_Missense_Mutation_p.N129Y|IL33_ENST00000417746.2_Missense_Mutation_p.N45Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	171					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACACCCCTCAAATGAATCAGG	0.378																																																0			9											129.0	122.0	124.0					9																	6253593		2203	4300	6503	6243593	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.511A>T	9.37:g.6253593A>T	ENSP00000370842:p.Asn171Tyr		6243593	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	NULL	p.N171Y	ENST00000381434.3	37	c.511	CCDS6468.1	9	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392769	0.25118	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.45668	0.89;0.89;0.89	4.29	0.546	0.17196	.	1.169080	0.06204	N	0.683832	T	0.21186	0.0510	N	0.08118	0	0.09310	N	1	B;B;B	0.26445	0.149;0.149;0.149	B;B;B	0.19666	0.019;0.026;0.026	T	0.22347	-1.0219	10	0.59425	D	0.04	0.013	3.2182	0.06706	0.5268:0.2157:0.2574:0.0	.	45;129;171	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	Y	45;129;171	ENSP00000394039:N45Y;ENSP00000414238:N129Y;ENSP00000370842:N171Y	ENSP00000370842:N171Y	N	+	1	0	IL33	6243593	0.001000	0.12720	0.002000	0.10522	0.288000	0.27193	0.859000	0.27858	0.084000	0.17077	0.533000	0.62120	AAT	-	NULL		0.378	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	protein_coding	OTTHUMT00000051655.1	A	NM_033439		6243593	+1	no_errors	NM_033439	genbank	human	validated	54_36p	missense	SNP	0.036	T
DNHD1	144132	genome.wustl.edu	37	11	6592978	6592978	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr11:6592978C>T	ENST00000527990.2	+	41	14024	c.14024C>T	c.(14023-14025)tCc>tTc	p.S4675F	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4675F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4675					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACAGTCCTTCCAGCCAACCC	0.632																																																0			11											40.0	52.0	48.0					11																	6592978		2145	4250	6395	6549554	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14024C>T	11.37:g.6592978C>T	ENSP00000436180:p.Ser4675Phe		6549554	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	HMMPfam_Dynein_heavy	p.S1032F	ENST00000527990.2	37	c.3095	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692986	0.30052	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08008	3.14;3.14	4.75	3.83	0.44106	Dynein heavy chain (1);	0.342816	0.27088	N	0.020989	T	0.21267	0.0512	M	0.65975	2.015	0.09310	N	1	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.57776	0.765;0.765;0.827	T	0.02156	-1.1204	10	0.59425	D	0.04	-4.147	12.536	0.56142	0.0:0.6461:0.3539:0.0	.	3763;728;4675	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	F	4675;4675;943	ENSP00000254579:S4675F;ENSP00000436180:S4675F	ENSP00000254579:S4675F	S	+	2	0	DNHD1	6549554	0.034000	0.19679	0.584000	0.28653	0.048000	0.14542	1.257000	0.32932	1.192000	0.43071	0.655000	0.94253	TCC	-	HMMPfam_Dynein_heavy		0.632	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	uc001mec.1	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6549554	+1	no_start_codon	ENST00000354346	ensembl	human	known	54_36p	missense	SNP	0.292	T
C3AR1	719	genome.wustl.edu	37	12	8212655	8212655	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:8212655G>T	ENST00000307637.4	-	2	330	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	43					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CACAGCACCAGCCCATTGCCT	0.542																																																0			12											77.0	74.0	75.0					12																	8212655		2203	4300	6503	8103922	SO:0001583	missense	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.127C>A	12.37:g.8212655G>T	ENSP00000302079:p.Leu43Met		8103922	O43771|Q92868	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L43M	ENST00000307637.4	37	c.127	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286859	0.59867	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.78595	-1.19;-1.19	5.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.113463	0.35870	N	0.002925	D	0.86892	0.6042	M	0.82716	2.605	0.38233	D	0.941097	D	0.89917	1.0	D	0.83275	0.996	D	0.88573	0.3131	10	0.72032	D	0.01	.	9.1455	0.36930	0.1306:0.0:0.8694:0.0	.	43	Q16581	C3AR_HUMAN	M	43	ENSP00000302079:L43M;ENSP00000444500:L43M	ENSP00000302079:L43M	L	-	1	2	C3AR1	8103922	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	0.074000	0.14662	2.672000	0.90937	0.484000	0.47621	CTG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.542	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	protein_coding	OTTHUMT00000400254.1	G			8103922	-1	no_errors	NM_004054	genbank	human	validated	54_36p	missense	SNP	0.567	T
GRIN2A	2903	genome.wustl.edu	37	16	9858426	9858426	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr16:9858426T>G	ENST00000396573.2	-	14	3284	c.2975A>C	c.(2974-2976)aAc>aCc	p.N992T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.N992T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N992T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N992T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N835T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N992T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	992					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGTGTTAGGGTTGGACTCATT	0.493																																																0			16											117.0	105.0	109.0					16																	9858426		2197	4300	6497	9765927	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2975A>C	16.37:g.9858426T>G	ENSP00000379818:p.Asn992Thr		9765927	O00669|Q17RZ6	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C	p.N992T	ENST00000396573.2	37	c.2975	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577436	0.45902	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11821	2.74;2.74;2.75;2.74;2.74	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.040645	0.85682	D	0.000000	T	0.35008	0.0917	M	0.65975	2.015	0.58432	D	0.999999	B;P;D	0.69078	0.42;0.475;0.997	B;P;D	0.79108	0.341;0.472;0.992	T	0.03695	-1.1012	9	.	.	.	.	14.4977	0.67700	0.0:0.0:0.0:1.0	.	835;992;992	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	992;992;835;992;992	ENSP00000379818:N992T;ENSP00000385872:N992T;ENSP00000441572:N835T;ENSP00000332549:N992T;ENSP00000379820:N992T	.	N	-	2	0	GRIN2A	9765927	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.860000	0.69546	2.016000	0.59253	0.533000	0.62120	AAC	-	HMMPfam_NMDAR2_C		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	protein_coding	OTTHUMT00000251930.3	T			9765927	-1	no_errors	NM_000833	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037825	10037825	+	RNA	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrY:10037825T>C	ENST00000515896.1	+	0	62									RNA, 5.8S ribosomal pseudogene 6																		GCTGTGAGAATTAATGTGAAT	0.517																																																0			Y																																								10647825			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037825T>C			10647825		Missense_Mutation	SNP	NULL	p.I7T	ENST00000515896.1	37	c.20		Y																																																																																			-	NULL		0.517	RNA5-8SP6-201	KNOWN	basic	rRNA	LOC100132755	rRNA		T			10647825	+1	no_errors	XM_001713806	genbank	human	model	54_36p	missense	SNP	1.000	C
EIF4G2	1982	genome.wustl.edu	37	11	10824654	10824654	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr11:10824654G>T	ENST00000526148.1	-	11	1429	c.919C>A	c.(919-921)Cac>Aac	p.H307N	RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H307N|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H307N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H307N	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACCCAATGGTGTTCTCGCAAC	0.333																																																0			11											79.0	75.0	76.0					11																	10824654		2201	4294	6495	10781230	SO:0001583	missense	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.919C>A	11.37:g.10824654G>T	ENSP00000433664:p.His307Asn		10781230		Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2	p.H307N	ENST00000526148.1	37	c.919	CCDS31428.1	11	.	.	.	.	.	.	.	.	.	.	G	7.207	0.594721	0.13875	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.88	5.88	0.94601	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.042611	0.85682	D	0.000000	T	0.03263	0.0095	N	0.00082	-2.215	0.34535	D	0.709614	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.32903	-0.9889	9	0.02654	T	1	-6.8537	14.9922	0.71396	0.0:0.0:0.8575:0.1425	.	307;307;380	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	N	307;307;307;307;380;307	ENSP00000433664:H307N;ENSP00000433371:H307N;ENSP00000340281:H307N;ENSP00000379778:H307N;ENSP00000431583:H307N	ENSP00000340281:H307N	H	-	1	0	EIF4G2	10781230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.055000	0.76656	2.780000	0.95670	0.655000	0.94253	CAC	-	superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543		0.333	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	EIF4G2	protein_coding	OTTHUMT00000386603.1	G	NM_001418		10781230	-1	no_start_codon	NM_001418	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TAS2R7	50837	genome.wustl.edu	37	12	10954680	10954680	+	Silent	SNP	T	T	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:10954680T>G	ENST00000240687.2	-	1	546	c.490A>C	c.(490-492)Agg>Cgg	p.R164R		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	164					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TTTGTTTTCCTCTTTGCCTTC	0.433																																																0			12											173.0	159.0	164.0					12																	10954680		2203	4300	6503	10845947	SO:0001819	synonymous_variant	50837			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.490A>C	12.37:g.10954680T>G			10845947	Q645Y1	Silent	SNP	HMMPfam_TAS2R,superfamily_SSF81321	p.R164	ENST00000240687.2	37	c.490	CCDS8631.1	12																																																																																			-	HMMPfam_TAS2R,superfamily_SSF81321		0.433	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	protein_coding	OTTHUMT00000399931.1	T			10845947	-1	no_errors	NM_023919	genbank	human	reviewed	54_36p	silent	SNP	0.000	G
DOCK6	57572	genome.wustl.edu	37	19	11312613	11312613	+	Silent	SNP	G	G	A	rs200959822	byFrequency	TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:11312613G>A	ENST00000294618.7	-	44	5651	c.5640C>T	c.(5638-5640)caC>caT	p.H1880H	DOCK6_ENST00000319867.7_Silent_p.H1219H|DOCK6_ENST00000586702.1_5'UTR|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1880	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGGGGAAGGCGTGGTCGGTGC	0.657													G|||	2	0.000399361	0.0015	0.0	5008	,	,		11923	0.0		0.0	False		,,,				2504	0.0															0			19						G		2,4260		0,2,2129	69.0	73.0	72.0		5640	-0.1	1.0	19		72	12,8428		0,12,4208	no	coding-synonymous	DOCK6	NM_020812.2		0,14,6337	AA,AG,GG		0.1422,0.0469,0.1102		1880/2048	11312613	14,12688	2131	4220	6351	11173613	SO:0001819	synonymous_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5640C>T	19.37:g.11312613G>A			11173613	A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	HMMPfam_Ded_cyto	p.H1880	ENST00000294618.7	37	c.5640	CCDS45975.1	19																																																																																			-	HMMPfam_Ded_cyto		0.657	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	protein_coding	OTTHUMT00000453155.1	G	NM_020812		11173613	-1	no_errors	NM_020812	genbank	human	validated	54_36p	silent	SNP	0.999	A
GREB1	9687	genome.wustl.edu	37	2	11752706	11752706	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:11752706G>A	ENST00000381486.2	+	19	3392	c.3092G>A	c.(3091-3093)gGg>gAg	p.G1031E	GREB1_ENST00000234142.5_Missense_Mutation_p.G1031E|GREB1_ENST00000396123.1_Missense_Mutation_p.G29E	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1031						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATCTTCAGTGGGATGGACCCG	0.582																																					Ovarian(39;850 945 2785 23371 33093)											0			2											126.0	124.0	124.0					2																	11752706		1963	4150	6113	11670157	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3092G>A	2.37:g.11752706G>A	ENSP00000370896:p.Gly1031Glu		11670157	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.G1031E	ENST00000381486.2	37	c.3092	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	30	5.056651	0.93793	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.75938	-0.98;-0.98;1.52	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86337	0.1702	10	0.52906	T	0.07	-0.9061	19.8101	0.96543	0.0:0.0:1.0:0.0	.	1031	Q4ZG55	GREB1_HUMAN	E	1031;1031;29	ENSP00000370896:G1031E;ENSP00000234142:G1031E;ENSP00000379429:G29E	ENSP00000234142:G1031E	G	+	2	0	GREB1	11670157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.084000	0.94076	2.696000	0.92011	0.655000	0.94253	GGG	-	NULL		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	G	NM_014668		11670157	+1	no_errors	NM_014668	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CLCN6	1185	genome.wustl.edu	37	1	11888645	11888645	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:11888645G>A	ENST00000346436.6	+	12	1137	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	CLCN6_ENST00000376487.3_Missense_Mutation_p.R340H|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376496.3_Missense_Mutation_p.R362H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	362					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAAGTACCGTATGCGAAAC	0.592																																																0			1											144.0	151.0	149.0					1																	11888645		2203	4300	6503	11811232	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1085G>A	1.37:g.11888645G>A	ENSP00000234488:p.Arg362His		11811232	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116	p.R362H	ENST00000346436.6	37	c.1085	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.744118	0.96882	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.94650	-3.48;-3.48;-3.48	6.17	6.17	0.99709	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98141	1.0436	10	0.66056	D	0.02	-17.9254	19.8676	0.96824	0.0:0.0:1.0:0.0	.	340;362	F8W9R3;P51797	.;CLCN6_HUMAN	H	362;340;362	ENSP00000234488:R362H;ENSP00000365670:R340H;ENSP00000365679:R362H	ENSP00000234488:R362H	R	+	2	0	CLCN6	11811232	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGT	-	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC		0.592	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11811232	+1	no_errors	NM_001286	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CEP192	55125	genome.wustl.edu	37	18	13124739	13124739	+	Silent	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr18:13124739A>G	ENST00000325971.8	+	43	7389	c.5796A>G	c.(5794-5796)cgA>cgG	p.R1932R	CEP192_ENST00000506447.1_Silent_p.R2528R|CEP192_ENST00000430049.2_Silent_p.R2053R|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1932					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGCTATTCGACTAATTGGTG	0.338																																																0			18											57.0	56.0	56.0					18																	13124739		2203	4300	6503	13114739	SO:0001819	synonymous_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5796A>G	18.37:g.13124739A>G			13114739	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	NULL	p.R1932	ENST00000325971.8	37	c.5796		18																																																																																			-	NULL		0.338	CEP192-201	KNOWN	basic	protein_coding	CEP192	protein_coding		A	NM_032142		13114739	+1	no_errors	NM_032142	genbank	human	validated	54_36p	silent	SNP	0.991	G
DNAH5	1767	genome.wustl.edu	37	5	13859658	13859658	+	Nonsense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr5:13859658G>C	ENST00000265104.4	-	30	4957	c.4853C>G	c.(4852-4854)tCa>tGa	p.S1618*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1618	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGTCTGTTGAGTTGGAAAG	0.418									Kartagener syndrome																																							0			5											163.0	158.0	159.0					5																	13859658		2203	4300	6503	13912658	SO:0001587	stop_gained	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4853C>G	5.37:g.13859658G>C	ENSP00000265104:p.Ser1618*		13912658	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.S1618*	ENST00000265104.4	37	c.4853	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	47	13.449097	0.99742	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.37	4.5	0.54988	.	0.113042	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.5703	0.68205	0.0708:0.0:0.9292:0.0	.	.	.	.	X	1618	.	ENSP00000265104:S1618X	S	-	2	0	DNAH5	13912658	1.000000	0.71417	0.780000	0.31762	0.975000	0.68041	7.668000	0.83897	1.392000	0.46585	0.563000	0.77884	TCA	-	HMMPfam_DHC_N2		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13912658	-1	no_errors	NM_001369	genbank	human	validated	54_36p	nonsense	SNP	0.999	C
COLQ	8292	genome.wustl.edu	37	3	15497416	15497416	+	Silent	SNP	G	G	A	rs548322139		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:15497416G>A	ENST00000383788.5	-	15	1310	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D	COLQ_ENST00000383787.2_Silent_p.D386D|COLQ_ENST00000383781.4_Silent_p.D385D|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Silent_p.D395D|COLQ_ENST00000435459.2_Silent_p.D385D|COLQ_ENST00000383786.5_Silent_p.D361D	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	395					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GGATGCAGTCGTCACCCACAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19299	0.0		0.001	False		,,,				2504	0.0															0			3											88.0	67.0	74.0					3																	15497416		2203	4300	6503	15472420	SO:0001819	synonymous_variant	8292			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1185C>T	3.37:g.15497416G>A			15472420	B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	HMMPfam_Collagen	p.D395	ENST00000383788.5	37	c.1185	CCDS33709.1	3																																																																																			-	NULL		0.632	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	protein_coding	OTTHUMT00000343575.1	G	NM_005677		15472420	-1	no_errors	NM_005677	genbank	human	reviewed	54_36p	silent	SNP	0.779	A
OR10H4	126541	genome.wustl.edu	37	19	16060230	16060230	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:16060230G>A	ENST00000322107.1	+	1	413	c.413G>A	c.(412-414)aGc>aAc	p.S138N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTGCTCATGAGCCCCCGTGAC	0.542																																																0			19											204.0	173.0	183.0					19																	16060230		2203	4300	6503	15921230	SO:0001583	missense	126541			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.413G>A	19.37:g.16060230G>A	ENSP00000318834:p.Ser138Asn		15921230	Q6IFJ2|Q96R57	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.S138N	ENST00000322107.1	37	c.413	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.592165	0.00864	.	.	ENSG00000176231	ENST00000322107	T	0.38887	1.11	1.53	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.284162	0.24967	U	0.034169	T	0.24624	0.0597	L	0.38838	1.175	0.09310	N	1	B	0.16802	0.019	B	0.21151	0.033	T	0.12268	-1.0554	10	0.12430	T	0.62	.	3.9006	0.09159	0.2383:0.0:0.7617:0.0	.	138	Q8NGA5	O10H4_HUMAN	N	138	ENSP00000318834:S138N	ENSP00000318834:S138N	S	+	2	0	OR10H4	15921230	0.000000	0.05858	0.117000	0.21633	0.183000	0.23260	-1.996000	0.01471	0.828000	0.34709	0.471000	0.43371	AGC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.542	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	protein_coding	OTTHUMT00000460311.1	G			15921230	+1	no_errors	NM_001004465	genbank	human	validated	54_36p	missense	SNP	0.430	A
CECR2	27443	genome.wustl.edu	37	22	18016828	18016828	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:18016828C>T	ENST00000400585.2	+	10	1094	c.656C>T	c.(655-657)gCa>gTa	p.A219V	CECR2_ENST00000400573.5_Missense_Mutation_p.A360V|CECR2_ENST00000342247.5_Missense_Mutation_p.A332V|CECR2_ENST00000262608.8_Missense_Mutation_p.A361V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	402					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAAGAAAGGGCATGGCTGCTG	0.502																																																0			22											82.0	87.0	86.0					22																	18016828		1984	4155	6139	16396828	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.656C>T	22.37:g.18016828C>T	ENSP00000383428:p.Ala219Val		16396828	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.A360V	ENST00000400585.2	37	c.1079		22	.	.	.	.	.	.	.	.	.	.	C	35	5.527195	0.96431	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.28895	2.04;1.75;1.76;1.59	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000060	T	0.55847	0.1946	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.55335	-0.8157	10	0.72032	D	0.01	-22.201	19.4202	0.94719	0.0:1.0:0.0:0.0	.	402;219;360	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	332;219;360;361	ENSP00000341219:A332V;ENSP00000383428:A219V;ENSP00000383417:A360V;ENSP00000262608:A361V	ENSP00000262608:A361V	A	+	2	0	CECR2	16396828	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.172000	0.77604	2.825000	0.97269	0.655000	0.94253	GCA	-	NULL		0.502	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	C	NM_031413		16396828	+1	no_errors	ENST00000400585	ensembl	human	known	54_36p	missense	SNP	1.000	T
MICAL3	57553	genome.wustl.edu	37	22	18443787	18443787	+	Intron	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:18443787G>T	ENST00000441493.2	-	2	279				MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000429452.1_Intron|MICAL3_ENST00000444520.1_Intron	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		gagcagggaagaatgacatcg	0.617																																																0			22																																								16823787	SO:0001627	intron_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.74-54135C>A	22.37:g.18443787G>T			16823787	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	NULL	p.F3L	ENST00000441493.2	37	c.9	CCDS46659.1	22																																																																																			-	NULL		0.617	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129113	protein_coding	OTTHUMT00000447351.1	G			16823787	-1	no_errors	XM_001726354	genbank	human	model	54_36p	missense	SNP	0.040	T
ESPNP	284729	genome.wustl.edu	37	1	17030605	17030605	+	RNA	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:17030605G>A	ENST00000492551.1	-	0	730					NR_026567.1				espin pseudogene																		CAGCTCCACGGATGGATCCCG	0.632																																																0			1																																								16903192			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17030605G>A			16903192		Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_WH2,HMMSmart_SM00246	p.S244F	ENST00000492551.1	37	c.731		1																																																																																			-	superfamily_Ankyrin repeat		0.632	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	pseudogene	OTTHUMT00000326311.1	G			16903192	-1	no_start_codon	ENST00000270691	ensembl	human	known	54_36p	missense	SNP	0.988	A
PLIN2	123	genome.wustl.edu	37	9	19116530	19116530	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:19116530T>C	ENST00000276914.2	-	8	1209	c.1030A>G	c.(1030-1032)Aag>Gag	p.K344E	PLIN2_ENST00000411567.1_Missense_Mutation_p.K263E	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	344					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CCCATGTGCTTGGCTTGATCT	0.542																																																0			9											156.0	113.0	128.0					9																	19116530		2203	4300	6503	19106530	SO:0001583	missense	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1030A>G	9.37:g.19116530T>C	ENSP00000276914:p.Lys344Glu		19106530	Q9BSC3	Missense_Mutation	SNP	HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain	p.K344E	ENST00000276914.2	37	c.1030	CCDS6490.1	9	.	.	.	.	.	.	.	.	.	.	T	0.869	-0.732672	0.03135	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.05319	3.46;3.46	5.75	1.65	0.23941	.	1.732290	0.02115	N	0.055152	T	0.05364	0.0142	N	0.24115	0.695	0.19300	N	0.999978	B	0.06786	0.001	B	0.12156	0.007	T	0.41716	-0.9493	10	0.06365	T	0.9	.	9.5281	0.39175	0.1067:0.0:0.4836:0.4097	.	344	Q99541	PLIN2_HUMAN	E	263;344	ENSP00000415270:K263E;ENSP00000276914:K344E	ENSP00000276914:K344E	K	-	1	0	PLIN2	19106530	0.992000	0.36948	0.638000	0.29380	0.164000	0.22412	2.026000	0.41069	0.403000	0.25479	-0.321000	0.08615	AAG	-	HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain		0.542	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ADFP	protein_coding	OTTHUMT00000051835.1	T	NM_001122		19106530	-1	no_errors	NM_001122	genbank	human	reviewed	54_36p	missense	SNP	0.223	C
PLEKHA5	54477	genome.wustl.edu	37	12	19489550	19489550	+	Splice_Site	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:19489550G>T	ENST00000299275.6	+	16	2247	c.2241G>T	c.(2239-2241)caG>caT	p.Q747H	PLEKHA5_ENST00000317589.4_Splice_Site_p.Q747H|PLEKHA5_ENST00000543806.1_Splice_Site_p.Q666H|PLEKHA5_ENST00000359180.3_Splice_Site_p.Q747H|PLEKHA5_ENST00000355397.3_Splice_Site_p.Q805H|PLEKHA5_ENST00000539256.1_Splice_Site_p.Q505H|PLEKHA5_ENST00000424268.1_Splice_Site_p.Q678H|PLEKHA5_ENST00000429027.2_Splice_Site_p.Q850H|PLEKHA5_ENST00000538714.1_Splice_Site_p.Q805H	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	747					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTGAAGTTCAGGTACAAAAGT	0.353																																					Pancreas(196;329 2193 11246 14234 19524)											0			12											68.0	68.0	68.0					12																	19489550		2203	4300	6503	19380817	SO:0001630	splice_region_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2241+1G>T	12.37:g.19489550G>T			19380817	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.Q747H	ENST00000299275.6	37	c.2241	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980644	0.74474	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	4.94	4.94	0.65067	.	0.129785	0.53938	D	0.000043	T	0.60689	0.2288	M	0.82716	2.605	0.48040	D	0.999579	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;0.997;0.997;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.998;0.995;0.995;0.966;0.997;0.997	T	0.67929	-0.5543	10	0.87932	D	0	-9.1073	17.7601	0.88462	0.0:0.0:1.0:0.0	.	747;666;678;850;747;850;747;805	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	H	747;805;747;851;850;747;505;805;678;666;639;84	ENSP00000325155:Q747H;ENSP00000347560:Q805H;ENSP00000352104:Q747H;ENSP00000404296:Q850H;ENSP00000299275:Q747H;ENSP00000440611:Q505H;ENSP00000439673:Q805H;ENSP00000400411:Q678H;ENSP00000439837:Q666H;ENSP00000440371:Q639H;ENSP00000443553:Q84H	ENSP00000299275:Q747H	Q	+	3	2	PLEKHA5	19380817	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.722000	0.74735	2.290000	0.77057	0.591000	0.81541	CAG	-	NULL		0.353	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	protein_coding	OTTHUMT00000397013.1	G	NM_019012	Missense_Mutation	19380817	+1	no_errors	NM_019012	genbank	human	validated	54_36p	missense	SNP	1.000	T
SLIT2	9353	genome.wustl.edu	37	4	20591304	20591304	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr4:20591304G>C	ENST00000504154.1	+	30	3378	c.3126G>C	c.(3124-3126)caG>caC	p.Q1042H	SLIT2_ENST00000503823.1_Missense_Mutation_p.Q1034H|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q1038H|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q1055H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1042	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTGTGCCCAGGACCTGAACC	0.502																																																0			4											134.0	108.0	117.0					4																	20591304		2203	4300	6503	20200402	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3126G>C	4.37:g.20591304G>C	ENSP00000422591:p.Gln1042His		20200402	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,HMMSmart_SM00365,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1	p.Q1042H	ENST00000504154.1	37	c.3126	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007607	0.54361	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.92647	-2.27;-2.27;-3.08;-2.27	5.42	0.711	0.18162	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.157893	0.64402	D	0.000019	D	0.86661	0.5986	N	0.04508	-0.205	0.46874	D	0.99923	B;P	0.48640	0.002;0.913	B;P	0.56343	0.008;0.796	D	0.83973	0.0328	10	0.54805	T	0.06	.	9.9597	0.41688	0.6157:0.0:0.3843:0.0	.	1034;1042	O94813-3;O94813	.;SLIT2_HUMAN	H	1034;1042;1055;1038;1038	ENSP00000427548:Q1034H;ENSP00000422591:Q1042H;ENSP00000273739:Q1055H;ENSP00000422261:Q1038H	ENSP00000273739:Q1055H	Q	+	3	2	SLIT2	20200402	0.999000	0.42202	0.963000	0.40424	0.988000	0.76386	0.566000	0.23593	-0.117000	0.11872	-0.136000	0.14681	CAG	-	HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF		0.502	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	G			20200402	+1	no_errors	NM_004787	genbank	human	provisional	54_36p	missense	SNP	0.996	C
RALGAPA2	57186	genome.wustl.edu	37	20	20553599	20553599	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr20:20553599C>G	ENST00000202677.7	-	21	2828	c.2821G>C	c.(2821-2823)Gat>Cat	p.D941H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	941					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTATTCACATCTCCGAGGATC	0.493																																																0			20											49.0	49.0	49.0					20																	20553599		1904	4134	6038	20501599	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2821G>C	20.37:g.20553599C>G	ENSP00000202677:p.Asp941His		20501599	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP	p.D941H	ENST00000202677.7	37	c.2821	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.597573|4.597573	0.87055|0.87055	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.74737|.	-0.87|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83156|0.83156	0.5193|0.5193	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.996|.	T|T	0.82694|0.82694	-0.0330|-0.0330	10|5	0.56958|.	D|.	0.05|.	.|.	20.5666|20.5666	0.99351|0.99351	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	779;941|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	H|D	941|757	ENSP00000202677:D941H|.	ENSP00000202677:D941H|.	D|E	-|-	1|3	0|2	RALGAPA2|RALGAPA2	20501599|20501599	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.600000|0.600000	0.36913|0.36913	7.770000|7.770000	0.85390|0.85390	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAT|GAG	-	NULL		0.493	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf74	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20501599	-1	no_errors	NM_020343	genbank	human	validated	54_36p	missense	SNP	1.000	G
CIDEB	27141	genome.wustl.edu	37	14	24775661	24775661	+	Silent	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr14:24775661G>A	ENST00000336557.5	-	6	1557	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CIDEB_ENST00000258807.5_Silent_p.D85D|LTB4R2_ENST00000528054.1_5'Flank|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Silent_p.D85D			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	85	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		AGTCCTCACTGTCCACTGCAG	0.557																																																0			14											225.0	175.0	192.0					14																	24775661		2203	4300	6503	23845501	SO:0001819	synonymous_variant	27141			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.255C>T	14.37:g.24775661G>A			23845501	D3DS73|Q546V8|Q9NNW9	Silent	SNP	superfamily_CAD  PB1 domains,HMMPfam_CIDE-N,HMMSmart_SM00266	p.D85	ENST00000336557.5	37	c.255	CCDS32056.1	14																																																																																			-	superfamily_CAD  PB1 domains,HMMPfam_CIDE-N,HMMSmart_SM00266		0.557	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	protein_coding	OTTHUMT00000414120.1	G			23845501	-1	no_errors	NM_014430	genbank	human	validated	54_36p	silent	SNP	0.995	A
SLC6A4	6532	genome.wustl.edu	37	17	28536242	28536242	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:28536242T>C	ENST00000401766.2	-	11	1980	c.1468A>G	c.(1468-1470)Aag>Gag	p.K490E	RP11-354P11.4_ENST00000581633.1_RNA|SLC6A4_ENST00000261707.3_Missense_Mutation_p.K490E			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	490					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TCCAGCAGCTTCACCACGTAG	0.627																																																0			17											61.0	56.0	58.0					17																	28536242		2203	4300	6503	25560368	SO:0001583	missense	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1468A>G	17.37:g.28536242T>C	ENSP00000385822:p.Lys490Glu		25560368	Q5EE02	Missense_Mutation	SNP	HMMPfam_5HT_transporter,HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.K490E	ENST00000401766.2	37	c.1468	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784467	0.31593	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.73575	-0.76;-0.76	5.8	4.72	0.59763	.	0.098369	0.64402	N	0.000001	T	0.67211	0.2869	L	0.33624	1.015	0.46260	D	0.99895	B	0.14438	0.01	B	0.32211	0.142	T	0.63211	-0.6688	10	0.54805	T	0.06	.	10.9573	0.47364	0.0:0.0733:0.0:0.9267	.	490	P31645	SC6A4_HUMAN	E	532;490;490	ENSP00000385822:K490E;ENSP00000261707:K490E	ENSP00000261707:K490E	K	-	1	0	SLC6A4	25560368	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	1.021000	0.39600	0.482000	0.46254	AAG	-	HMMPfam_SNF		0.627	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	protein_coding	OTTHUMT00000256115.3	T	NM_001045		25560368	-1	no_errors	NM_001045	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SLC6A4	6532	genome.wustl.edu	37	17	28545857	28545857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:28545857C>A	ENST00000401766.2	-	3	948	c.436G>T	c.(436-438)Gga>Tga	p.G146*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.G146*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	146					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GAAATGCATCCATTTCGGTGG	0.522																																																0			17											130.0	130.0	130.0					17																	28545857		2203	4300	6503	25569983	SO:0001587	stop_gained	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.436G>T	17.37:g.28545857C>A	ENSP00000385822:p.Gly146*		25569983	Q5EE02	Nonsense_Mutation	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2,HMMPfam_5HT_transporter	p.G146*	ENST00000401766.2	37	c.436	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.585302	0.99211	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8371	0.92167	0.0:1.0:0.0:0.0	.	.	.	.	X	188;146;146	.	ENSP00000261707:G146X	G	-	1	0	SLC6A4	25569983	1.000000	0.71417	0.966000	0.40874	0.971000	0.66376	7.814000	0.86154	2.689000	0.91719	0.655000	0.94253	GGA	-	HMMPfam_SNF		0.522	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	protein_coding	OTTHUMT00000256115.3	C	NM_001045		25569983	-1	no_errors	NM_001045	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
ZBED9	114821	genome.wustl.edu	37	6	28554161	28554161	+	Missense_Mutation	SNP	C	C	T	rs201333721		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:28554161C>T	ENST00000452236.2	-	1	951	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGCTCCCGCACCCAAGACTGG	0.522																																																0			6											121.0	127.0	125.0					6																	28554161		2203	4300	6503	28662140	SO:0001583	missense	114821																														ENST00000452236.2:c.334G>A	6.37:g.28554161C>T	ENSP00000395259:p.Val112Met		28662140		Missense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC	p.V112M	ENST00000452236.2	37	c.334	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	19.81	3.897096	0.72639	.	.	ENSG00000232040	ENST00000452236	T	0.10477	2.87	3.46	3.46	0.39613	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.28699	0.0711	M	0.90425	3.115	0.32092	N	0.59173	D	0.76494	0.999	D	0.85130	0.997	T	0.17684	-1.0361	9	0.87932	D	0	.	12.8515	0.57860	0.0:1.0:0.0:0.0	.	112	Q6R2W3	SCND3_HUMAN	M	112	ENSP00000395259:V112M	ENSP00000395259:V112M	V	-	1	0	SCAND3	28662140	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	2.953000	0.49105	1.938000	0.56188	0.655000	0.94253	GTG	-	HMMPfam_SCAN,HMMSmart_SCAN		0.522	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	C			28662140	-1	no_errors	NM_052923	genbank	human	provisional	54_36p	missense	SNP	1.000	T
CCDC157	550631	genome.wustl.edu	37	22	30766773	30766773	+	Silent	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:30766773C>G	ENST00000405659.1	+	5	1588	c.879C>G	c.(877-879)ctC>ctG	p.L293L	CCDC157_ENST00000338306.3_Silent_p.L293L			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	293										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGGAGGCCCTCAGGGCCCAGC	0.682																																																0			22											29.0	29.0	29.0					22																	30766773		2202	4300	6502	29096773	SO:0001819	synonymous_variant	0			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.879C>G	22.37:g.30766773C>G			29096773	Q0VD76|Q9BYA4	Silent	SNP	NULL	p.L242	ENST00000405659.1	37	c.726	CCDS33632.2	22																																																																																			-	NULL		0.682	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	protein_coding	OTTHUMT00000320936.1	C	NM_001017437		29096773	+1	no_errors	NM_001017437	genbank	human	validated	54_36p	silent	SNP	0.433	G
ZNF24	7572	genome.wustl.edu	37	18	32920347	32920347	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr18:32920347G>C	ENST00000261332.6	-	2	447	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	ZNF24_ENST00000399061.3_Missense_Mutation_p.Q90E|ZNF24_ENST00000589881.1_Missense_Mutation_p.Q90E	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	90	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCCAAGATTTGTTCTTTTGTG	0.542																																					Colon(42;769 913 8916 19469 46270)											0			18											162.0	164.0	163.0					18																	32920347		2203	4300	6503	31174345	SO:0001583	missense	7572			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.268C>G	18.37:g.32920347G>C	ENSP00000261332:p.Gln90Glu		31174345	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.Q90E	ENST00000261332.6	37	c.268	CCDS11912.1	18	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852971	0.51270	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.07021	3.23;3.23	4.38	4.38	0.52667	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.47093	D	0.000256	T	0.36331	0.0963	M	0.92077	3.27	0.36734	D	0.881849	D;P	0.56035	0.974;0.899	D;P	0.67725	0.953;0.822	T	0.56786	-0.7921	10	0.87932	D	0	.	14.8443	0.70249	0.0:0.0:1.0:0.0	.	90;90	P17028-2;P17028	.;ZNF24_HUMAN	E	90	ENSP00000261332:Q90E;ENSP00000382015:Q90E	ENSP00000261332:Q90E	Q	-	1	0	ZNF24	31174345	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.264000	0.65513	2.446000	0.82766	0.650000	0.86243	CAA	-	HMMPfam_SCAN,HMMSmart_SCAN		0.542	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	protein_coding	OTTHUMT00000255769.1	G	NM_006965		31174345	-1	no_errors	NM_006965	genbank	human	validated	54_36p	missense	SNP	0.996	C
MEMO1	51072	genome.wustl.edu	37	2	32143091	32143091	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:32143091C>G	ENST00000295065.5	-	5	650	c.341G>C	c.(340-342)tGg>tCg	p.W114S	MEMO1_ENST00000379383.3_Missense_Mutation_p.W117S|MEMO1_ENST00000426310.2_Missense_Mutation_p.W91S|MEMO1_ENST00000404530.1_Missense_Mutation_p.W114S|AL121652.1_ENST00000408399.1_RNA|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	114					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TCCTGTCTTCCACAGTTCTCC	0.353																																																0			2											73.0	66.0	68.0					2																	32143091		2203	4300	6503	31996595	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.341G>C	2.37:g.32143091C>G	ENSP00000295065:p.Trp114Ser		31996595	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	HMMPfam_Memo	p.W114S	ENST00000295065.5	37	c.341	CCDS1776.1	2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584932	0.28268	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	N	0.25144	0.715	0.80722	D	1	B;B	0.17667	0.005;0.023	B;B	0.12837	0.003;0.008	T	0.46762	-0.9168	9	0.06891	T	0.86	-4.729	19.7614	0.96319	0.0:1.0:0.0:0.0	.	91;114	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	S	114;117;114;91	.	ENSP00000295065:W114S	W	-	2	0	MEMO1	31996595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.727000	0.68523	2.773000	0.95371	0.585000	0.79938	TGG	-	HMMPfam_Memo		0.353	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	protein_coding	OTTHUMT00000250251.2	C	NM_015955		31996595	-1	no_errors	NM_015955	genbank	human	validated	54_36p	missense	SNP	1.000	G
TAF1L	138474	genome.wustl.edu	37	9	32632136	32632136	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:32632136G>C	ENST00000242310.4	-	1	3531	c.3442C>G	c.(3442-3444)Cta>Gta	p.L1148V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1148					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTCGCCGTAGTTCCTTCCGC	0.483																																																0			9											224.0	169.0	188.0					9																	32632136		2203	4300	6503	32622136	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3442C>G	9.37:g.32632136G>C	ENSP00000418379:p.Leu1148Val		32622136	Q0VG57	Missense_Mutation	SNP	HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.L1148V	ENST00000242310.4	37	c.3442	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732233	0.48939	.	.	ENSG00000122728	ENST00000242310	T	0.18338	2.22	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	M	0.73372	2.23	0.49582	D	0.999805	P	0.47106	0.89	B	0.40741	0.339	T	0.04320	-1.0960	10	0.56958	D	0.05	.	2.8706	0.05616	0.3869:0.0:0.6131:0.0	.	1148	Q8IZX4	TAF1L_HUMAN	V	1148	ENSP00000418379:L1148V	ENSP00000418379:L1148V	L	-	1	2	TAF1L	32622136	1.000000	0.71417	0.983000	0.44433	0.570000	0.35934	1.536000	0.36072	0.507000	0.28148	0.195000	0.17529	CTA	-	NULL		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	protein_coding	OTTHUMT00000052012.2	G			32622136	-1	no_errors	NM_153809	genbank	human	provisional	54_36p	missense	SNP	1.000	C
NRP1	8829	genome.wustl.edu	37	10	33559605	33559605	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:33559605C>A	ENST00000265371.4	-	4	953	c.428G>T	c.(427-429)aGa>aTa	p.R143I	NRP1_ENST00000374821.5_Missense_Mutation_p.R143I|NRP1_ENST00000395995.1_Missense_Mutation_p.R143I|NRP1_ENST00000374867.2_Missense_Mutation_p.R143I|NRP1_ENST00000374816.3_Missense_Mutation_p.R143I|NRP1_ENST00000374822.4_Missense_Mutation_p.R143I|NRP1_ENST00000374823.5_Missense_Mutation_p.R143I|NRP1_ENST00000374875.1_Intron|NRP1_ENST00000432372.2_Missense_Mutation_p.R143I			O14786	NRP1_HUMAN	neuropilin 1	143					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCACTCACCTCTCTTGAAAAT	0.443																																					Melanoma(104;886 1489 44640 45944 51153)											0			10											89.0	88.0	88.0					10																	33559605		2203	4300	6503	33599611	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.428G>T	10.37:g.33559605C>A	ENSP00000265371:p.Arg143Ile		33599611	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1	p.R143I	ENST00000265371.4	37	c.428	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069319	0.55539	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	D;D;D;D;D;D;D	0.90261	-2.27;-2.27;-2.28;-2.62;-2.59;-2.64;-2.62	5.71	3.87	0.44632	.	0.189453	0.53938	D	0.000041	T	0.81327	0.4799	N	0.11131	0.1	0.58432	D	0.999999	P;P;P;B;P;B;P;P	0.49090	0.565;0.565;0.788;0.02;0.919;0.309;0.565;0.737	B;B;B;B;B;B;B;B	0.43990	0.164;0.28;0.405;0.028;0.325;0.075;0.164;0.438	T	0.80792	-0.1224	10	0.72032	D	0.01	-17.1081	7.8773	0.29601	0.0:0.7274:0.1323:0.1403	.	143;143;143;143;143;143;143;143	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	I	143	ENSP00000265371:R143I;ENSP00000364001:R143I;ENSP00000379317:R143I;ENSP00000363955:R143I;ENSP00000363954:R143I;ENSP00000363956:R143I;ENSP00000363949:R143I	ENSP00000265371:R143I	R	-	2	0	NRP1	33599611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.160000	0.58164	0.772000	0.33382	0.655000	0.94253	AGA	-	NULL		0.443	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	protein_coding	OTTHUMT00000051203.2	C			33599611	-1	no_errors	NM_003873	genbank	human	validated	54_36p	missense	SNP	1.000	A
RBM12	10137	genome.wustl.edu	37	20	34243208	34243208	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr20:34243208C>A	ENST00000374114.3	-	3	300	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000352393.4_5'UTR|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_5'UTR|RBM12_ENST00000359646.1_Missense_Mutation_p.V13L|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V145L|CPNE1_ENST00000317619.3_5'UTR|RBM12_ENST00000374104.3_Missense_Mutation_p.V13L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	13						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTCCCCGCCACAATTGGGAGA	0.542											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			20											54.0	57.0	56.0					20																	34243208		2203	4300	6503	33706622	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.37G>T	20.37:g.34243208C>A	ENSP00000363228:p.Val13Leu	846	33706622	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.V13L	ENST00000374114.3	37	c.37	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890806	0.33348	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.23147	3.15;3.15;3.15;1.92;2.27;2.29	5.22	4.28	0.50868	.	0.000000	0.64402	D	0.000002	T	0.17323	0.0416	N	0.19112	0.55	0.80722	D	1	B	0.22276	0.067	B	0.20184	0.028	T	0.04400	-1.0954	9	.	.	.	-7.7456	15.3996	0.74827	0.14:0.86:0.0:0.0	.	13	Q9NTZ6	RBM12_HUMAN	L	13	ENSP00000363228:V13L;ENSP00000352668:V13L;ENSP00000363217:V13L;ENSP00000411036:V13L;ENSP00000392642:V13L;ENSP00000411692:V13L	.	V	-	1	0	RBM12	33706622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.516000	0.60496	1.430000	0.47334	0.655000	0.94253	GTG	-	superfamily_RNA-binding domain RBD		0.542	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	protein_coding	OTTHUMT00000078894.1	C	NM_006047		33706622	-1	no_errors	NM_006047	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RXFP3	51289	genome.wustl.edu	37	5	33938038	33938038	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr5:33938038A>C	ENST00000330120.3	+	1	1548	c.1193A>C	c.(1192-1194)aAg>aCg	p.K398T		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	398					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGTTCCGCAAGGCGCTCAAG	0.647																																																0			5											64.0	66.0	66.0					5																	33938038		2203	4300	6503	33973795	SO:0001583	missense	51289			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1193A>C	5.37:g.33938038A>C	ENSP00000328708:p.Lys398Thr		33973795	Q14DA5	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.K398T	ENST00000330120.3	37	c.1193	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339433	0.60963	.	.	ENSG00000182631	ENST00000330120	T	0.39592	1.07	5.79	5.79	0.91817	.	0.243460	0.42420	D	0.000717	T	0.34308	0.0893	L	0.27053	0.805	0.48632	D	0.999682	B	0.13145	0.007	B	0.12156	0.007	T	0.08911	-1.0699	10	0.59425	D	0.04	-14.7002	16.1193	0.81336	1.0:0.0:0.0:0.0	.	398	Q9NSD7	RL3R1_HUMAN	T	398	ENSP00000328708:K398T	ENSP00000328708:K398T	K	+	2	0	RXFP3	33973795	0.345000	0.24835	0.990000	0.47175	0.996000	0.88848	3.006000	0.49529	2.201000	0.70794	0.533000	0.62120	AAG	-	superfamily_SSF81321		0.647	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	protein_coding	OTTHUMT00000207369.1	A	NM_016568		33973795	+1	no_errors	NM_016568	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CCL21	6366	genome.wustl.edu	37	9	34709534	34709534	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:34709534T>A	ENST00000259607.2	-	3	391	c.334A>T	c.(334-336)Act>Tct	p.T112S	CCL21_ENST00000378792.1_Missense_Mutation_p.T112S	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	112	C-terminal basic extension.				activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCTTGCCAGTCTTGGAGGCC	0.587																																																0			9											81.0	78.0	79.0					9																	34709534		2203	4300	6503	34699534	SO:0001583	missense	6366			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"""Chemokine ligands"", ""Endogenous ligands"""	10620	protein-coding gene	gene with protein product	"""beta chemokine exodus-2"", ""secondary lymphoid tissue chemokine"", ""Efficient Chemoattractant for Lymphocytes"""	602737	"""small inducible cytokine subfamily A (Cys-Cys), member 21"""	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.334A>T	9.37:g.34709534T>A	ENSP00000259607:p.Thr112Ser		34699534		Missense_Mutation	SNP	superfamily_Interleukin 8-like chemokines,HMMPfam_IL8,HMMSmart_SM00199	p.T112S	ENST00000259607.2	37	c.334	CCDS6571.1	9	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560772	0.03939	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.02050	4.48;4.5	5.46	-10.9	0.00192	.	3.289040	0.00769	N	0.001181	T	0.00666	0.0022	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44877	-0.9299	10	0.02654	T	1	3.4501	2.8232	0.05478	0.1512:0.396:0.2701:0.1827	.	112	O00585	CCL21_HUMAN	S	112	ENSP00000259607:T112S;ENSP00000368069:T112S	ENSP00000259607:T112S	T	-	1	0	CCL21	34699534	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-4.058000	0.00304	-2.495000	0.00514	-0.248000	0.11899	ACT	-	NULL		0.587	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL21	protein_coding	OTTHUMT00000052245.1	T	NM_002989		34699534	-1	no_errors	NM_002989	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
PVALB	5816	genome.wustl.edu	37	22	37209723	37209723	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:37209723C>A	ENST00000216200.5	-	4	326	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	PVALB_ENST00000404171.1_Missense_Mutation_p.D59Y|CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000417718.2_Missense_Mutation_p.D91Y	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						CCATCTTTGTCTCCAGCAGCC	0.517																																																0			22											169.0	150.0	156.0					22																	37209723		2203	4300	6503	35539669	SO:0001583	missense	5816				CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"""EF-hand domain containing"""	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.271G>T	22.37:g.37209723C>A	ENSP00000216200:p.Asp91Tyr		35539669	B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.D91Y	ENST00000216200.5	37	c.271	CCDS13933.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.7|20.7	4.041583|4.041583	0.75732|0.75732	.|.	.|.	ENSG00000100362|ENSG00000100362	ENST00000417718;ENST00000216200;ENST00000404171;ENST00000443735|ENST00000406910	D;D;D;D|.	0.93811|.	-2.83;-2.83;-2.83;-3.29|.	5.41|5.41	5.41|5.41	0.78517|0.78517	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90710|0.90710	0.7085|0.7085	H|H	0.97896|0.97896	4.1|4.1	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94003|0.94003	0.7277|0.7277	10|5	0.87932|.	D|.	0|.	-9.5338|-9.5338	19.2254|19.2254	0.93816|0.93816	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	91|.	P20472|.	PRVA_HUMAN|.	Y|D	91;91;59;91|89	ENSP00000400247:D91Y;ENSP00000216200:D91Y;ENSP00000386089:D59Y;ENSP00000406977:D91Y|.	ENSP00000216200:D91Y|.	D|E	-|-	1|3	0|2	PVALB|PVALB	35539669|35539669	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.541000|0.541000	0.35023|0.35023	7.443000|7.443000	0.80521|0.80521	2.541000|2.541000	0.85698|0.85698	0.645000|0.645000	0.84053|0.84053	GAC|GAG	-	superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1		0.517	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVALB	protein_coding	OTTHUMT00000318857.1	C	NM_002854		35539669	-1	no_errors	NM_002854	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TRIOBP	11078	genome.wustl.edu	37	22	38155502	38155502	+	Intron	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr22:38155502A>C	ENST00000406386.3	+	17	6579				TRIOBP_ENST00000403663.2_Intron|TRIOBP_ENST00000407319.2_Missense_Mutation_p.T422P	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.T422P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					gcccaaggtcaccccgcctgc	0.572																																																1	Substitution - Missense(1)	prostate(1)	22											65.0	63.0	64.0					22																	38155502		2203	4300	6503	36485448	SO:0001627	intron_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6324+231A>C	22.37:g.38155502A>C			36485448	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729	p.T422P	ENST00000406386.3	37	c.1264	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.511869	0.00984	.	.	ENSG00000100106	ENST00000407319	.	.	.	4.98	-1.87	0.07737	.	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	8	0.56958	D	0.05	.	1.3255	0.02124	0.393:0.3:0.1767:0.1303	.	422	F2Z2W0	.	P	422	.	ENSP00000383913:T422P	T	+	1	0	TRIOBP	36485448	0.034000	0.19679	0.001000	0.08648	0.310000	0.27922	0.008000	0.13197	-0.509000	0.06532	0.523000	0.50628	ACC	-	NULL		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	A			36485448	+1	no_errors	NM_138632	genbank	human	reviewed	54_36p	missense	SNP	0.068	C
SNORA40	677822	genome.wustl.edu	37	10	36727651	36727651	+	lincRNA	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:36727651A>T	ENST00000390846.1	+	0	63									small nucleolar RNA, H/ACA box 40																		GCAAAAAATAAGTCCTCTTTT	0.378																																																0			10																																								36767657			0			AJ609445		11q21	2013-09-05			ENSG00000210825	ENSG00000210825		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32633	non-coding RNA	RNA, small nucleolar						15199136, 16381836	Standard	NR_002973		Approved	ACA40	uc021poh.1				10.37:g.36727651A>T			36767657		RNA	SNP	-	NULL	ENST00000390846.1	37	NULL		10																																																																																			-	-		0.378	SNORA40.11-201	KNOWN	basic	snoRNA	ENSG00000212148	lincRNA		A	NR_002973		36767657	+1	no_errors	ENST00000390846	ensembl	human	novel	54_36p	rna	SNP	0.973	T
KCNU1	157855	genome.wustl.edu	37	8	36768523	36768523	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:36768523C>A	ENST00000399881.3	+	22	2444	c.2407C>A	c.(2407-2409)Cca>Aca	p.P803T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	803					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTTGTCCCCCCCACCCCAGCC	0.527																																																0			8											94.0	99.0	97.0					8																	36768523		2008	4175	6183	36887681	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2407C>A	8.37:g.36768523C>A	ENSP00000382770:p.Pro803Thr		36887681		Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a	p.P803T	ENST00000399881.3	37	c.2407	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	C	0.253	-1.005106	0.02112	.	.	ENSG00000215262	ENST00000399881	T	0.40476	1.03	5.67	1.17	0.20885	.	0.835458	0.09567	U	0.784724	T	0.30947	0.0781	L	0.46157	1.445	0.09310	N	0.999999	P	0.46277	0.875	B	0.37508	0.252	T	0.14671	-1.0464	10	0.49607	T	0.09	-1.0293	5.4434	0.16521	0.1308:0.5591:0.0:0.3101	.	803	A8MYU2	KCNU1_HUMAN	T	803	ENSP00000382770:P803T	ENSP00000382770:P803T	P	+	1	0	KCNU1	36887681	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.107000	0.10873	-0.071000	0.12886	0.655000	0.94253	CCA	-	NULL		0.527	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	C	NM_001031836		36887681	+1	no_errors	NM_001031836	genbank	human	validated	54_36p	missense	SNP	0.012	A
CDK13	8621	genome.wustl.edu	37	7	40102447	40102447	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:40102447A>G	ENST00000181839.4	+	8	3228	c.2623A>G	c.(2623-2625)Att>Gtt	p.I875V	CDK13_ENST00000340829.5_Missense_Mutation_p.I875V|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	875	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAACAAGGTAATTACTTTATG	0.388																																																0			7											310.0	324.0	319.0					7																	40102447		2203	4300	6503	40068972	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2623A>G	7.37:g.40102447A>G	ENSP00000181839:p.Ile875Val		40068972	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.I875V	ENST00000181839.4	37	c.2623	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	.	18.06	3.538540	0.65085	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.63913	-0.07;-0.07	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.52821	0.1758	N	0.01277	-0.915	0.80722	D	1	P;D;D	0.62365	0.938;0.991;0.968	P;D;D	0.72625	0.773;0.978;0.959	T	0.64110	-0.6484	8	.	.	.	-7.2673	15.9541	0.79871	1.0:0.0:0.0:0.0	.	261;875;875	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	V	875	ENSP00000181839:I875V;ENSP00000340557:I875V	.	I	+	1	0	CDK13	40068972	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.307000	0.96226	2.235000	0.73313	0.460000	0.39030	ATT	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.388	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC2L5	protein_coding	OTTHUMT00000250726.2	A	NM_003718		40068972	+1	no_errors	NM_003718	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ZBTB21	49854	genome.wustl.edu	37	21	43411520	43411520	+	Silent	SNP	T	T	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr21:43411520T>A	ENST00000310826.5	-	3	2868	c.2685A>T	c.(2683-2685)acA>acT	p.T895T	ZBTB21_ENST00000398505.3_Silent_p.T694T|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Silent_p.T895T|ZBTB21_ENST00000398499.1_Silent_p.T895T	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	895					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CTTTGGGGGCTGTGCTGGCCT	0.562																																																0			21											57.0	62.0	60.0					21																	43411520		2203	4300	6503	42284589	SO:0001819	synonymous_variant	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2685A>T	21.37:g.43411520T>A			42284589	Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.T895	ENST00000310826.5	37	c.2685	CCDS13678.1	21																																																																																			-	NULL		0.562	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	protein_coding	OTTHUMT00000195308.1	T	NM_020727		42284589	-1	no_errors	NM_001098402	genbank	human	validated	54_36p	silent	SNP	0.000	A
ZNF22	7570	genome.wustl.edu	37	10	45499328	45499328	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:45499328A>C	ENST00000298299.3	+	2	1105	c.512A>C	c.(511-513)gAa>gCa	p.E171A	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	171					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CAGTGCAGTGAATGTGGCAAA	0.502																																																0			10											79.0	85.0	83.0					10																	45499328		2203	4300	6503	44819334	SO:0001583	missense	7570			BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.512A>C	10.37:g.45499328A>C	ENSP00000298299:p.Glu171Ala		44819334	Q5T741|Q96FM4	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.E171A	ENST00000298299.3	37	c.512	CCDS7211.1	10	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469529	0.43839	.	.	ENSG00000165512	ENST00000298299	T	0.06933	3.24	5.23	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	T	0.11452	0.0279	M	0.64080	1.96	0.38064	D	0.936171	B	0.13145	0.007	B	0.22386	0.039	T	0.03597	-1.1021	10	0.62326	D	0.03	-23.9633	10.3998	0.44222	0.8355:0.1645:0.0:0.0	.	171	P17026	ZNF22_HUMAN	A	171	ENSP00000298299:E171A	ENSP00000298299:E171A	E	+	2	0	ZNF22	44819334	0.003000	0.15002	0.921000	0.36526	0.890000	0.51754	1.670000	0.37502	0.979000	0.38497	0.533000	0.62120	GAA	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.502	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF22	protein_coding	OTTHUMT00000047761.1	A	NM_006963		44819334	+1	no_errors	NM_006963	genbank	human	validated	54_36p	missense	SNP	0.994	C
ZNF182	7569	genome.wustl.edu	37	X	47842383	47842383	+	Silent	SNP	C	C	T	rs186734046		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:47842383C>T	ENST00000396965.1	-	6	605	c.255G>A	c.(253-255)ccG>ccA	p.P85P	ZNF182_ENST00000376943.3_Silent_p.P66P|ZNF182_ENST00000305127.6_Silent_p.P85P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTCCTTCTGCCGGGCATTCTT	0.488													C|||	2	0.000529801	0.0	0.0	3775	,	,		13916	0.002		0.0	False		,,,				2504	0.0															0			X											106.0	86.0	93.0					X																	47842383		2203	4300	6503	47727327	SO:0001819	synonymous_variant	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.255G>A	X.37:g.47842383C>T			47727327	A2IDD7|Q3KP67|Q96QH7	Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P85	ENST00000396965.1	37	c.255	CCDS35236.1	X																																																																																			-	HMMSmart_KRAB		0.488	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	protein_coding	OTTHUMT00000277055.1	C	NM_006962		47727327	-1	no_errors	NM_006962	genbank	human	validated	54_36p	silent	SNP	0.001	T
ABCA13	154664	genome.wustl.edu	37	7	48312540	48312540	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:48312540G>C	ENST00000435803.1	+	17	3301	c.3277G>C	c.(3277-3279)Gac>Cac	p.D1093H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1093					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGTAGAAGACCTATTGGA	0.338																																																0			7											44.0	42.0	43.0					7																	48312540		1813	4079	5892	48283086	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3277G>C	7.37:g.48312540G>C	ENSP00000411096:p.Asp1093His		48283086	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	PatternScan_SERPIN	p.K1038N	ENST00000435803.1	37	c.3114	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	4.121	0.020751	0.08006	.	.	ENSG00000179869	ENST00000435803	D	0.85484	-1.99	5.7	0.449	0.16619	.	1.541850	0.03946	N	0.287633	T	0.69441	0.3111	N	0.08118	0	0.09310	N	1	B	0.32396	0.369	B	0.27170	0.077	T	0.62695	-0.6800	10	0.72032	D	0.01	.	4.421	0.11481	0.2328:0.0:0.3718:0.3954	.	1093	Q86UQ4	ABCAD_HUMAN	H	1093	ENSP00000411096:D1093H	ENSP00000411096:D1093H	D	+	1	0	ABCA13	48283086	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.127000	0.10547	0.085000	0.17107	0.655000	0.94253	GAC	-	NULL		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	protein_coding	OTTHUMT00000341964.2	G	NM_152701		48283086	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_152701	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
MYO5A	4644	genome.wustl.edu	37	15	52662503	52662503	+	Missense_Mutation	SNP	C	C	T	rs373690028		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr15:52662503C>T	ENST00000399231.3	-	22	3172	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	MYO5A_ENST00000356338.6_Missense_Mutation_p.E977K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E977K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E977K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E977K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	977					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTTCGCTTCCTCTTCACTT	0.448																																																0			15						C	LYS/GLU,LYS/GLU	0,3748		0,0,1874	102.0	95.0	97.0		2929,2929	5.7	1.0	15		97	1,8195		0,1,4097	no	missense,missense	MYO5A	NM_000259.3,NM_001142495.1	56,56	0,1,5971	TT,TC,CC		0.0122,0.0,0.0084	benign,benign	977/1856,977/1829	52662503	1,11943	1874	4098	5972	50449795	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2929G>A	15.37:g.52662503C>T	ENSP00000382177:p.Glu977Lys		50449795	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL	p.E977K	ENST00000399231.3	37	c.2929	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.376432	0.95945	0.0	1.22E-4	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.69	5.69	0.88448	.	0.101382	0.64402	D	0.000003	T	0.29423	0.0733	L	0.43923	1.385	0.80722	D	1	P;D	0.55385	0.848;0.971	B;P	0.47941	0.272;0.562	T	0.01222	-1.1414	10	0.66056	D	0.02	.	19.8165	0.96571	0.0:1.0:0.0:0.0	.	977;977	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	977;511;977;977;977;607;977	ENSP00000382177:E977K;ENSP00000382179:E977K;ENSP00000348693:E977K;ENSP00000350945:E977K;ENSP00000451109:E977K	ENSP00000348693:E977K	E	-	1	0	MYO5A	50449795	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.264000	0.65513	2.683000	0.91414	0.655000	0.94253	GAA	-	NULL		0.448	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	protein_coding	OTTHUMT00000268102.1	C	NM_000259		50449795	-1	no_errors	NM_000259	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KRT7	3855	genome.wustl.edu	37	12	52639292	52639292	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:52639292C>G	ENST00000331817.5	+	7	1264	c.1081C>G	c.(1081-1083)Ctg>Gtg	p.L361V	KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	361	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GGAAGCCGCCCTGCAGCGGGG	0.642																																																0			12											45.0	46.0	46.0					12																	52639292		2203	4300	6503	50925559	SO:0001583	missense	3855				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1081C>G	12.37:g.52639292C>G	ENSP00000329243:p.Leu361Val		50925559	Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.L361V	ENST00000331817.5	37	c.1081	CCDS8822.1	12	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745893	0.49151	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	D	0.91295	-2.82	4.4	4.4	0.53042	Filament (1);	0.000000	0.30118	N	0.010364	D	0.96614	0.8895	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.97830	1.0262	10	0.87932	D	0	.	17.5702	0.87933	0.0:1.0:0.0:0.0	.	361	P08729	K2C7_HUMAN	V	361;337	ENSP00000329243:L361V	ENSP00000329243:L361V	L	+	1	2	KRT7	50925559	1.000000	0.71417	0.996000	0.52242	0.108000	0.19459	4.517000	0.60503	2.455000	0.83008	0.561000	0.74099	CTG	-	HMMPfam_Filament		0.642	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT7	protein_coding	OTTHUMT00000404897.1	C	NM_005556		50925559	+1	no_errors	NM_005556	genbank	human	reviewed	54_36p	missense	SNP	0.997	G
TXNDC12	51060	genome.wustl.edu	37	1	52494286	52494286	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:52494286C>G	ENST00000371626.4	-	3	1249	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L		NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	59					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	TGAATAATCACCATCAGGGGC	0.299																																																0			1											84.0	82.0	83.0					1																	52494286		2203	4300	6503	52266874	SO:0001583	missense	51060			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"""Protein disulfide isomerases"""	24626	protein-coding gene	gene with protein product	"""endoplasmic reticulum thioredoxin superfamily member, 18 kDa"", ""anterior gradient homolog 1 (Xenopus laevis)"", ""protein disulfide isomerase family A, member 16"""	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.175G>C	1.37:g.52494286C>G	ENSP00000360688:p.Val59Leu		52266874	B3KQS0|Q5T1T4|Q96H50	Missense_Mutation	SNP	superfamily_Thioredoxin-like,PatternScan_THIOREDOXIN_1	p.V59L	ENST00000371626.4	37	c.175	CCDS561.1	1	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483172	0.12581	.	.	ENSG00000117862	ENST00000371626	T	0.54071	0.59	5.6	5.6	0.85130	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.129390	0.51477	D	0.000092	T	0.34424	0.0897	N	0.25245	0.725	0.44825	D	0.997836	B	0.06786	0.001	B	0.12156	0.007	T	0.16748	-1.0392	10	0.02654	T	1	.	13.1476	0.59472	0.0:0.9237:0.0:0.0763	.	59	O95881	TXD12_HUMAN	L	59	ENSP00000360688:V59L	ENSP00000360688:V59L	V	-	1	0	TXNDC12	52266874	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.499000	0.53310	2.622000	0.88805	0.655000	0.94253	GTG	-	superfamily_Thioredoxin-like,PatternScan_THIOREDOXIN_1		0.299	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC12	protein_coding	OTTHUMT00000023818.1	C	NM_015913		52266874	-1	no_errors	NM_015913	genbank	human	provisional	54_36p	missense	SNP	1.000	G
BTF3L4	91408	genome.wustl.edu	37	1	52552386	52552386	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:52552386C>A	ENST00000313334.8	+	6	701	c.433C>A	c.(433-435)Ctt>Att	p.L145I	BTF3L4_ENST00000472944.2_Missense_Mutation_p.L87I|BTF3L4_ENST00000489308.2_Silent_p.I77I	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	145										endometrium(2)|kidney(1)|large_intestine(2)	5						TTTTTCAGATCTTGTAGAAAA	0.308																																																0			1											58.0	61.0	60.0					1																	52552386		2201	4299	6500	52324974	SO:0001583	missense	91408			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.433C>A	1.37:g.52552386C>A	ENSP00000360664:p.Leu145Ile		52324974	B3KNJ1|D3DQ32|G3V1C6	Missense_Mutation	SNP	HMMPfam_NAC	p.L145I	ENST00000313334.8	37	c.433	CCDS30713.1	1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301802	0.60195	.	.	ENSG00000134717	ENST00000313334;ENST00000472944	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	M	0.86651	2.83	0.80722	D	1	B	0.27594	0.182	B	0.27380	0.079	T	0.75391	-0.3334	9	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	145	Q96K17	BT3L4_HUMAN	I	145;87	.	ENSP00000360664:L145I	L	+	1	0	BTF3L4	52324974	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.221000	0.78016	2.687000	0.91594	0.655000	0.94253	CTT	-	NULL		0.308	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTF3L4	protein_coding	OTTHUMT00000024848.1	C	NM_152265		52324974	+1	no_errors	NM_152265	genbank	human	validated	54_36p	missense	SNP	1.000	A
CALCOCO1	57658	genome.wustl.edu	37	12	54117433	54117433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:54117433C>A	ENST00000550804.1	-	4	454	c.394G>T	c.(394-396)Gag>Tag	p.E132*	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Nonsense_Mutation_p.E132*|CALCOCO1_ENST00000430117.2_Nonsense_Mutation_p.E99*|CALCOCO1_ENST00000548263.1_Nonsense_Mutation_p.E132*			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	132	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCATCAGCCTCCTCCAGGGTC	0.577																																																0			12											76.0	73.0	74.0					12																	54117433		2203	4300	6503	52403700	SO:0001587	stop_gained	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.394G>T	12.37:g.54117433C>A	ENSP00000449960:p.Glu132*		52403700	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Nonsense_Mutation	SNP	HMMPfam_CALCOCO1	p.E132*	ENST00000550804.1	37	c.394	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.819133	0.96982	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549173;ENST00000548177	.	.	.	4.79	4.79	0.61399	.	0.000000	0.46442	D	0.000291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-22.687	17.4946	0.87714	0.0:1.0:0.0:0.0	.	.	.	.	X	99;132;132;132;125;9;132;132;132;132;152;132	.	ENSP00000262059:E132X	E	-	1	0	CALCOCO1	52403700	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.367000	0.59498	2.586000	0.87340	0.655000	0.94253	GAG	-	HMMPfam_CALCOCO1		0.577	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	protein_coding	OTTHUMT00000407233.2	C	NM_020898		52403700	-1	no_errors	NM_020898	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
PCDH15	65217	genome.wustl.edu	37	10	55571358	55571358	+	Silent	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:55571358T>C	ENST00000395438.1	-	34	4789	c.4395A>G	c.(4393-4395)gaA>gaG	p.E1465E	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Silent_p.E1076E|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGGATCAATTCCAGACTCC	0.308										HNSCC(58;0.16)																																						0			10											29.0	32.0	31.0					10																	55571358		1568	3579	5147	55241364	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395438.1:c.4395A>G	10.37:g.55571358T>C			55241364	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin	p.E1465	ENST00000395438.1	37	c.4395	CCDS44400.1	10																																																																																			-	NULL		0.308	PCDH15-017	NOVEL	not_organism_supported|basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000291344.1	T	NM_033056		55241364	-1	no_errors	ENST00000395438	ensembl	human	known	54_36p	silent	SNP	1.000	C
SLC12A3	6559	genome.wustl.edu	37	16	56920284	56920284	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr16:56920284G>A	ENST00000563236.1	+	16	1959	c.1934G>A	c.(1933-1935)tGc>tAc	p.C645Y	SLC12A3_ENST00000262502.5_Missense_Mutation_p.C644Y|SLC12A3_ENST00000438926.2_Missense_Mutation_p.C645Y|SLC12A3_ENST00000566786.1_Missense_Mutation_p.C644Y			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	645					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGCCCCCAGTGCCTGGTGCTC	0.662																																																0			16											39.0	40.0	40.0					16																	56920284		2198	4300	6498	55477785	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1934G>A	16.37:g.56920284G>A	ENSP00000456149:p.Cys645Tyr		55477785	A8MSJ2|C9JNN9	Missense_Mutation	SNP	HMMPfam_AA_permease_N,HMMPfam_AA_permease	p.C645Y	ENST00000563236.1	37	c.1934	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486873	0.84854	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.07	5.07	0.68467	Amino acid permease domain (1);	0.101921	0.64402	D	0.000001	D	0.85120	0.5624	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	0.962;1.0;0.993	P;D;D	0.97110	0.783;1.0;0.969	D	0.88322	0.2963	9	0.87932	D	0	.	18.4751	0.90790	0.0:0.0:1.0:0.0	.	644;645;645	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Y	644;645	.	ENSP00000262502:C645Y	C	+	2	0	SLC12A3	55477785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.335000	0.79485	0.563000	0.77884	TGC	-	HMMPfam_AA_permease		0.662	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	G			55477785	+1	no_errors	NM_000339	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KDR	3791	genome.wustl.edu	37	4	55955115	55955115	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr4:55955115G>A	ENST00000263923.4	-	26	3725	c.3430C>T	c.(3430-3432)Cac>Tac	p.H1144Y	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCTCCCCGTGCCAGCAGTCC	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											93.0	93.0	93.0					4																	55955115		2203	4300	6503	55649872	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3430C>T	4.37:g.55955115G>A	ENSP00000263923:p.His1144Tyr		55649872	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.H1144Y	ENST00000263923.4	37	c.3430	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591045	0.46214	.	.	ENSG00000128052	ENST00000263923	D	0.82893	-1.66	5.13	5.13	0.70059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.262047	0.38663	N	0.001603	D	0.84701	0.5530	L	0.54908	1.71	0.51012	D	0.999907	P	0.36249	0.545	B	0.44133	0.442	D	0.84399	0.0559	10	0.46703	T	0.11	.	18.9199	0.92520	0.0:0.0:1.0:0.0	.	1144	P35968	VGFR2_HUMAN	Y	1144	ENSP00000263923:H1144Y	ENSP00000263923:H1144Y	H	-	1	0	KDR	55649872	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.703000	0.61824	2.559000	0.86315	0.313000	0.20887	CAC	-	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	G			55649872	-1	no_errors	NM_002253	genbank	human	validated	54_36p	missense	SNP	1.000	A
RPS3AP49	400652	genome.wustl.edu	37	18	57817099	57817099	+	lincRNA	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr18:57817099C>G	ENST00000588794.1	+	0	346																											AACTGCCTAACTTCCATGGCA	0.398																																																0			18																																								55968079			400652																															18.37:g.57817099C>G			55968079		RNA	SNP	-	NULL	ENST00000588794.1	37	NULL		18																																																																																			-	-		0.398	RP11-795H16.3-001	KNOWN	basic|exp_conf	lincRNA	LOC400652	lincRNA	OTTHUMT00000449080.1	C			55968079	+1	pseudogene	XR_038859	genbank	human	model	54_36p	rna	SNP	1.000	G
DPRX	503834	genome.wustl.edu	37	19	54135380	54135380	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:54135380T>G	ENST00000376650.1	+	1	71	c.20T>G	c.(19-21)cTt>cGt	p.L7R	RN7SL317P_ENST00000497408.2_RNA	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TCAGAGGATCTTCGTAAAGGT	0.507																																																0			19											127.0	123.0	124.0					19																	54135380		2203	4300	6503	58827192	SO:0001583	missense	503834				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.20T>G	19.37:g.54135380T>G	ENSP00000365838:p.Leu7Arg		58827192		Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.L7R	ENST00000376650.1	37	c.20	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	T	5.231	0.228198	0.09916	.	.	ENSG00000204595	ENST00000376650	D	0.94576	-3.46	1.89	0.827	0.18835	Homeodomain-related (1);	.	.	.	.	D	0.91119	0.7204	L	0.36672	1.1	0.09310	N	0.999999	D	0.69078	0.997	P	0.54590	0.756	T	0.82242	-0.0554	9	0.11182	T	0.66	.	3.8009	0.08758	0.0:0.2008:0.0:0.7992	.	7	A6NFQ7	DPRX_HUMAN	R	7	ENSP00000365838:L7R	ENSP00000365838:L7R	L	+	2	0	DPRX	58827192	0.001000	0.12720	0.301000	0.25044	0.053000	0.15095	-0.674000	0.05233	0.191000	0.20236	0.397000	0.26171	CTT	-	superfamily_Homeodomain_like		0.507	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	protein_coding	OTTHUMT00000409880.1	T	NM_001012728		58827192	+1	no_errors	NM_001012728	genbank	human	validated	54_36p	missense	SNP	0.007	G
LOC105378753	105378753	genome.wustl.edu	37	1	59364917	59364917	+	lincRNA	SNP	C	C	T	rs78658066	byFrequency	TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:59364917C>T	ENST00000423408.1	-	0	0				RP4-794H19.2_ENST00000419531.2_lincRNA																							ATACAGCCCACGCAGAGGAAG	0.547													C|||	71	0.0141773	0.028	0.0086	5008	,	,		18725	0.005		0.0209	False		,,,				2504	0.002															0			1																																								59137505			0																															1.37:g.59364917C>T			59137505		Missense_Mutation	SNP	PatternScan_EGF_2	p.T112M	ENST00000423408.1	37	c.335		1																																																																																			-	NULL		0.547	RP4-794H19.1-001	KNOWN	not_organism_supported|basic	lincRNA	LOC100131060	lincRNA	OTTHUMT00000023040.1	C			59137505	+1	no_errors	XM_001726501	genbank	human	model	54_36p	missense	SNP	0.001	T
DLG3	1741	genome.wustl.edu	37	X	69719792	69719792	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:69719792G>A	ENST00000374360.3	+	16	2271	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000194900.4_Missense_Mutation_p.E712K|DLG3_ENST00000542398.1_Missense_Mutation_p.E229K|DLG3_ENST00000374355.3_Missense_Mutation_p.E375K	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	680	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGTCCCGAGAACAAATGGA	0.498																																																0			X											101.0	75.0	83.0					X																	69719792		2203	4300	6503	69636517	SO:0001583	missense	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2038G>A	X.37:g.69719792G>A	ENSP00000363480:p.Glu680Lys		69636517	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	HMMPfam_MAGUK_N_PEST,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PDZ_assoc,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C	p.E680K	ENST00000374360.3	37	c.2038	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420524	0.83559	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.65	5.65	0.86999	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.91140	3.18	0.80722	D	1	D;D;D	0.65815	0.971;0.991;0.995	P;P;D	0.68353	0.673;0.826;0.957	T	0.80369	-0.1411	9	.	.	.	.	17.55	0.87873	0.0:0.0:1.0:0.0	.	229;375;680	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	K	712;680;375;229	ENSP00000194900:E712K;ENSP00000363480:E680K;ENSP00000363475:E375K;ENSP00000441393:E229K	.	E	+	1	0	DLG3	69636517	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.548000	0.82154	2.618000	0.88619	0.600000	0.82982	GAA	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,HMMPfam_Guanylate_kin		0.498	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	G	NM_021120		69636517	+1	no_errors	NM_021120	genbank	human	validated	54_36p	missense	SNP	1.000	A
AIFM2	84883	genome.wustl.edu	37	10	71874873	71874873	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:71874873C>T	ENST00000307864.1	-	8	986	c.773G>A	c.(772-774)aGc>aAc	p.S258N	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.S258N	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	258					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTAGTCTGCTCTCTGCCAG	0.572																																																0			10											62.0	43.0	50.0					10																	71874873		2203	4300	6503	71544879	SO:0001583	missense	84883			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.773G>A	10.37:g.71874873C>T	ENSP00000312370:p.Ser258Asn		71544879	B3KXI0|Q63Z39	Missense_Mutation	SNP	superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2	p.S258N	ENST00000307864.1	37	c.773	CCDS7297.1	10	.	.	.	.	.	.	.	.	.	.	C	6.936	0.542460	0.13250	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.45668	0.89;0.89	5.93	-1.11	0.09840	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.633961	0.18309	N	0.145162	T	0.25269	0.0614	L	0.28608	0.87	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.23691	-1.0181	10	0.17832	T	0.49	-4.9821	9.711	0.40245	0.0:0.2795:0.0:0.7205	.	258	Q9BRQ8	AIFM2_HUMAN	N	258;258;221	ENSP00000362345:S258N;ENSP00000312370:S258N	ENSP00000312370:S258N	S	-	2	0	AIFM2	71544879	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	0.437000	0.21543	-0.076000	0.12775	-0.137000	0.14449	AGC	-	superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2		0.572	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM2	protein_coding	OTTHUMT00000048487.1	C	NM_032797		71544879	-1	no_errors	NM_032797	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
TOMM20P4	100129272	genome.wustl.edu	37	X	72443205	72443205	+	IGR	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:72443205T>C								NAP1L2 (8521 upstream) : RNU6-1044P (174161 downstream)																							AGTTACTAGCTCAAGGTGAAT	0.448																																																0			X																																								72359930	SO:0001628	intergenic_variant	0																															X.37:g.72443205T>C			72359930		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.448					LOC100129272			T			72359930	+1	pseudogene	XR_038735	genbank	human	model	54_36p	rna	SNP	0.998	C
SLC4A4	8671	genome.wustl.edu	37	4	72317017	72317017	+	Splice_Site	SNP	C	C	T	rs530167253		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr4:72317017C>T	ENST00000264485.5	+	11	1438	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Splice_Site_p.R441W|SLC4A4_ENST00000425175.1_Splice_Site_p.R441W|SLC4A4_ENST00000340595.3_Splice_Site_p.R397W|SLC4A4_ENST00000512686.1_Splice_Site_p.R397W	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	441					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R397W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCGAACTGGACGGTAACTGAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19879	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	large_intestine(1)	4											205.0	161.0	176.0					4																	72317017		2203	4300	6503	72535881	SO:0001630	splice_region_variant	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1322+1C>T	4.37:g.72317017C>T			72535881	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp	p.R441W	ENST00000264485.5	37	c.1321	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125221	0.56721	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	6.08	1.91	0.25777	Bicarbonate transporter, C-terminal (1);	0.042903	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;P;D;D	0.91635	0.993;0.999;0.98;0.901;0.982;0.973	D	0.93676	0.6994	10	0.87932	D	0	.	15.7218	0.77718	0.6097:0.3903:0.0:0.0	.	441;441;397;397;421;441	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	W	441;441;441;397;397	ENSP00000264485:R441W;ENSP00000393557:R441W;ENSP00000307349:R441W;ENSP00000422400:R397W;ENSP00000344272:R397W	ENSP00000264485:R441W	R	+	1	2	SLC4A4	72535881	0.995000	0.38212	1.000000	0.80357	0.361000	0.29550	0.958000	0.29227	0.424000	0.26061	-0.122000	0.15005	CGG	-	HMMPfam_HCO3_cotransp		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	protein_coding	OTTHUMT00000362090.1	C	NM_003759	Missense_Mutation	72535881	+1	no_errors	NM_001098484	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CCDC40	55036	genome.wustl.edu	37	17	78023969	78023969	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:78023969A>T	ENST00000397545.4	+	7	1073	c.1046A>T	c.(1045-1047)cAc>cTc	p.H349L	CCDC40_ENST00000269318.5_Missense_Mutation_p.H349L|CCDC40_ENST00000374876.4_Missense_Mutation_p.H349L|CCDC40_ENST00000374877.3_Missense_Mutation_p.H349L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	349					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGAAGAGTCACGACCGCCAC	0.652																																																0			17											17.0	22.0	20.0					17																	78023969		2145	4262	6407	75638564	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1046A>T	17.37:g.78023969A>T	ENSP00000380679:p.His349Leu		75638564	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	HMMPfam_BRE1	p.H349L	ENST00000397545.4	37	c.1046	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	A	14.38	2.516737	0.44763	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.53423	0.64;2.03;0.63;0.62	4.85	3.76	0.43208	.	.	.	.	.	T	0.64962	0.2646	M	0.78637	2.42	0.36502	D	0.869067	D;B;B	0.71674	0.998;0.078;0.206	D;B;B	0.66979	0.948;0.034;0.133	T	0.73777	-0.3876	9	0.72032	D	0.01	-37.3722	10.1177	0.42601	0.9204:0.0:0.0796:0.0	.	349;349;132	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	L	349	ENSP00000364011:H349L;ENSP00000269318:H349L;ENSP00000364010:H349L;ENSP00000380679:H349L	ENSP00000269318:H349L	H	+	2	0	CCDC40	75638564	0.996000	0.38824	0.995000	0.50966	0.556000	0.35491	3.677000	0.54619	1.932000	0.55993	0.533000	0.62120	CAC	-	NULL		0.652	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	protein_coding	OTTHUMT00000256005.2	A	XM_371082		75638564	+1	no_errors	NM_017950	genbank	human	validated	54_36p	missense	SNP	0.869	T
ZFHX4	79776	genome.wustl.edu	37	8	77616799	77616799	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:77616799A>T	ENST00000521891.2	+	2	924	c.476A>T	c.(475-477)aAa>aTa	p.K159I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K159I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K159I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K159I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAAATAGCAAACTCTTTTCT	0.478										HNSCC(33;0.089)																																						0			8											67.0	68.0	68.0					8																	77616799		1942	4141	6083	77779354	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.476A>T	8.37:g.77616799A>T	ENSP00000430497:p.Lys159Ile		77779354	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.K159I	ENST00000521891.2	37	c.476	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794349	0.31777	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.42	5.42	0.78866	.	0.000000	0.47455	U	0.000231	T	0.25644	0.0624	N	0.19112	0.55	0.43355	D	0.995424	B;B;B;B	0.33583	0.294;0.418;0.418;0.358	B;B;B;B	0.30943	0.057;0.122;0.122;0.086	T	0.06356	-1.0831	10	0.40728	T	0.16	.	15.6293	0.76888	1.0:0.0:0.0:0.0	.	159;159;159;159	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	159	ENSP00000430497:K159I;ENSP00000399605:K159I;ENSP00000050961:K159I;ENSP00000430848:K159I	ENSP00000050961:K159I	K	+	2	0	ZFHX4	77779354	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.920000	0.63390	2.276000	0.75962	0.528000	0.53228	AAA	-	NULL		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	A	NM_024721		77779354	+1	no_errors	NM_024721	genbank	human	validated	54_36p	missense	SNP	1.000	T
HK2P1	642546	genome.wustl.edu	37	X	79828606	79828606	+	IGR	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:79828606T>C								FAM46D (127796 upstream) : BRWD3 (97746 downstream)																							TGAGTCTCCTTGCTCAGACCT	0.592																																																0			X																																								79715262	SO:0001628	intergenic_variant	0																															X.37:g.79828606T>C			79715262		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.592					LOC642546			T			79715262	-1	pseudogene	XR_038841	genbank	human	model	54_36p	rna	SNP	0.597	C
DDX10P2	401533	genome.wustl.edu	37	9	84703555	84703555	+	IGR	SNP	T	T	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:84703555T>A								SPATA31D1 (93384 upstream) : RP11-15B24.5 (184115 downstream)																							GCCATTCGGGTTTCTTCAGTT	0.483																																																0			9																																								83893375	SO:0001628	intergenic_variant	401533																															9.37:g.84703555T>A			83893375		RNA	SNP	-	NULL		37	NULL		9																																																																																			-	-	0	0.483					LOC401533			T			83893375	-1	pseudogene	XR_016904	genbank	human	model	54_36p	rna	SNP	1.000	A
HTR1E	3354	genome.wustl.edu	37	6	87725691	87725691	+	Silent	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:87725691C>T	ENST00000305344.5	+	2	1342	c.639C>T	c.(637-639)taC>taT	p.Y213Y		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	213					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGAGCCTTTACCAGAAAAGGG	0.433																																																0			6											95.0	95.0	95.0					6																	87725691		2203	4300	6503	87782410	SO:0001819	synonymous_variant	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.639C>T	6.37:g.87725691C>T			87782410	E1P503|Q9P1Y1	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.Y213	ENST00000305344.5	37	c.639	CCDS5006.1	6																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.433	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	protein_coding	OTTHUMT00000472488.2	C	NM_000865		87782410	+1	no_errors	NM_000865	genbank	human	validated	54_36p	silent	SNP	1.000	T
POC1B	282809	genome.wustl.edu	37	12	89865474	89865474	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr12:89865474C>G	ENST00000313546.3	-	6	721	c.593G>C	c.(592-594)gGt>gCt	p.G198A	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Missense_Mutation_p.G156A|POC1B_ENST00000541909.1_Missense_Mutation_p.G68A|POC1B_ENST00000393179.4_Missense_Mutation_p.G68A|POC1B_ENST00000378528.2_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	198					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TATGCATGTACCACTAGGGTT	0.343																																																0			12											125.0	120.0	122.0					12																	89865474		2203	4300	6503	88389605	SO:0001583	missense	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.593G>C	12.37:g.89865474C>G	ENSP00000323302:p.Gly198Ala		88389605	G3V1X0	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.G198A	ENST00000313546.3	37	c.593	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017425	0.93404	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	D;D;D;D	0.84944	-1.9;-1.92;-1.9;-1.9	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94140	0.7396	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	198	Q8TC44	POC1B_HUMAN	A	68;198;156;68	ENSP00000376877:G68A;ENSP00000323302:G198A;ENSP00000447916:G156A;ENSP00000440301:G68A	ENSP00000323302:G198A	G	-	2	0	POC1B	88389605	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.611000	0.82962	2.857000	0.98124	0.650000	0.86243	GGT	-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.343	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR51B	protein_coding	OTTHUMT00000406637.1	C	NM_172240		88389605	-1	no_errors	NM_172240	genbank	human	provisional	54_36p	missense	SNP	1.000	G
IGKC	3514	genome.wustl.edu	37	2	89157071	89157071	+	RNA	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:89157071C>T	ENST00000390237.2	-	0	125				AC096579.7_ENST00000430694.1_RNA|AC096579.13_ENST00000452230.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCGTTATCCACCTTCCACTGT	0.537																																																0			2											88.0	87.0	87.0					2																	89157071		2119	4237	6356	88938186			3514			J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89157071C>T			88938186		Silent	SNP	superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC	p.R42	ENST00000390237.2	37	c.126		2																																																																																			-	superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407		0.537	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGKC	IG_C_gene	OTTHUMT00000323482.1	C	NG_000834		88938186	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390237	ensembl	human	known	54_36p	silent	SNP	0.590	T
GFI1	2672	genome.wustl.edu	37	1	92948578	92948578	+	Silent	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:92948578C>G	ENST00000370332.1	-	3	459	c.141G>C	c.(139-141)gcG>gcC	p.A47A	GFI1_ENST00000427103.1_Silent_p.A47A|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Silent_p.A47A	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	47					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GCTCCGCCTTCGCCCCGCCTG	0.657																																																0			1											30.0	38.0	35.0					1																	92948578		2199	4298	6497	92721166	SO:0001819	synonymous_variant	2672			U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.141G>C	1.37:g.92948578C>G			92721166	Q8N564	Silent	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2HC	p.A47	ENST00000370332.1	37	c.141	CCDS30773.1	1																																																																																			-	NULL		0.657	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFI1	protein_coding	OTTHUMT00000030054.1	C	NM_005263		92721166	-1	no_errors	NM_005263	genbank	human	reviewed	54_36p	silent	SNP	0.824	G
PAPOLA	10914	genome.wustl.edu	37	14	97022190	97022190	+	Silent	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr14:97022190C>T	ENST00000216277.8	+	18	1891	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	PAPOLA_ENST00000392990.2_Silent_p.N557N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	557	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ttaGCAGAAACAGTCCTGCTC	0.303																																					NSCLC(19;254 734 11908 35501 39234)											0			14											68.0	71.0	70.0					14																	97022190		2203	4300	6503	96091943	SO:0001819	synonymous_variant	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1671C>T	14.37:g.97022190C>T			96091943	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	HMMPfam_PAP_central,superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2,superfamily_PAP/OAS1 substrate-binding domain,superfamily_PAP/Archaeal CCA-adding enzyme C-terminal domain,HMMPfam_PAP_RNA-bind	p.N557	ENST00000216277.8	37	c.1671	CCDS9946.1	14	.	.	.	.	.	.	.	.	.	.	C	8.207	0.799475	0.16397	.	.	ENSG00000090060	ENST00000556459	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	T	0.71160	0.3307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68194	-0.5473	4	.	.	.	.	14.5916	0.68368	0.0:0.9303:0.0:0.0697	.	.	.	.	I	58	.	.	T	+	2	0	PAPOLA	96091943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.783000	0.47766	2.906000	0.99361	0.655000	0.94253	ACA	-	NULL		0.303	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	protein_coding	OTTHUMT00000413411.2	C			96091943	+1	no_errors	NM_032632	genbank	human	validated	54_36p	silent	SNP	1.000	T
GIGYF1	64599	genome.wustl.edu	37	7	100284314	100284314	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:100284314C>T	ENST00000275732.5	-	7	1861	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	218					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCCGGGGCCCTGCTCCGAGC	0.687																																																0			7											26.0	31.0	29.0					7																	100284314		2202	4293	6495	100122250	SO:0001583	missense	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.652G>A	7.37:g.100284314C>T	ENSP00000275732:p.Gly218Arg		100122250	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF	p.G218R	ENST00000275732.5	37	c.652	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	17.46	3.395164	0.62066	.	.	ENSG00000146830	ENST00000275732	D	0.84516	-1.86	4.68	4.68	0.58851	.	0.134244	0.49305	D	0.000157	D	0.89424	0.6711	L	0.49126	1.545	0.48762	D	0.999701	D	0.89917	1.0	D	0.83275	0.996	D	0.89987	0.4105	10	0.72032	D	0.01	-13.4689	12.982	0.58570	0.0:1.0:0.0:0.0	.	218	O75420	PERQ1_HUMAN	R	218	ENSP00000275732:G218R	ENSP00000275732:G218R	G	-	1	0	GIGYF1	100122250	0.995000	0.38212	1.000000	0.80357	0.335000	0.28730	3.583000	0.53928	2.430000	0.82344	0.563000	0.77884	GGG	-	NULL		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	C	NM_022574		100122250	-1	no_errors	NM_022574	genbank	human	validated	54_36p	missense	SNP	0.978	T
COL8A1	1295	genome.wustl.edu	37	3	99514871	99514871	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:99514871G>A	ENST00000261037.3	+	5	2506	c.2126G>A	c.(2125-2127)aGg>aAg	p.R709K	COL8A1_ENST00000273342.4_Missense_Mutation_p.R709K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	709	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CTGCTGCTCAGGCCCGGAGAC	0.537																																																0			3											43.0	41.0	42.0					3																	99514871		2203	4300	6503	100997561	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2126G>A	3.37:g.99514871G>A	ENSP00000261037:p.Arg709Lys		100997561	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	HMMPfam_Collagen,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q	p.R709K	ENST00000261037.3	37	c.2126	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716830	0.15306	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.85339	-1.97;-1.97	6.08	4.3	0.51218	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.258546	0.41823	D	0.000809	T	0.56992	0.2023	N	0.01128	-1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.48747	-0.9008	10	0.13108	T	0.6	.	6.0599	0.19832	0.1541:0.0:0.6952:0.1506	.	710;709	E7EPK9;P27658	.;CO8A1_HUMAN	K	709	ENSP00000261037:R709K;ENSP00000273342:R709K	ENSP00000261037:R709K	R	+	2	0	COL8A1	100997561	0.997000	0.39634	0.583000	0.28640	0.996000	0.88848	2.592000	0.46171	0.911000	0.36747	0.591000	0.81541	AGG	-	HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q		0.537	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	protein_coding	OTTHUMT00000309001.1	G	NM_001850		100997561	+1	no_errors	NM_001850	genbank	human	reviewed	54_36p	missense	SNP	0.006	A
ERP44	23071	genome.wustl.edu	37	9	102814807	102814807	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:102814807A>G	ENST00000262455.6	-	4	377	c.178T>C	c.(178-180)Ttc>Ctc	p.F60L		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	60	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						ATCTGACTGAAACGACACCTA	0.358																																																0			9											92.0	86.0	88.0					9																	102814807		2203	4300	6503	101854628	SO:0001583	missense	23071			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.178T>C	9.37:g.102814807A>G	ENSP00000262455:p.Phe60Leu		101854628	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_ER_TARGET	p.F60L	ENST00000262455.6	37	c.178	CCDS35082.1	9	.	.	.	.	.	.	.	.	.	.	A	32	5.149967	0.94645	.	.	ENSG00000023318	ENST00000262455	T	0.03152	4.03	5.62	5.62	0.85841	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00581	-1.1660	10	0.56958	D	0.05	-0.4947	14.8215	0.70077	1.0:0.0:0.0:0.0	.	60	Q9BS26	ERP44_HUMAN	L	60	ENSP00000262455:F60L	ENSP00000262455:F60L	F	-	1	0	ERP44	101854628	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.563000	0.90723	2.150000	0.67090	0.533000	0.62120	TTC	-	superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin		0.358	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP44	protein_coding	OTTHUMT00000053402.1	A	XM_088476		101854628	-1	no_errors	NM_015051	genbank	human	validated	54_36p	missense	SNP	1.000	G
GPRASP2	114928	genome.wustl.edu	37	X	101969952	101969952	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:101969952C>G	ENST00000535209.1	+	4	986	c.155C>G	c.(154-156)aCt>aGt	p.T52S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.T52S|GPRASP2_ENST00000543253.1_Missense_Mutation_p.T52S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	52						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCCCAAAACTGAGACCAAG	0.567																																																0			X											108.0	98.0	102.0					X																	101969952		2203	4300	6503	101856608	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.155C>G	X.37:g.101969952C>G	ENSP00000437394:p.Thr52Ser		101856608	D3DXA0|Q8NAB4	Missense_Mutation	SNP	HMMPfam_DUF634,superfamily_ARM-type_fold	p.T52S	ENST00000535209.1	37	c.155	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628048	0.28978	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07444	3.19;3.19;3.19	4.16	4.16	0.48862	.	0.000000	0.45361	D	0.000378	T	0.04770	0.0129	L	0.27053	0.805	0.29001	N	0.887458	B	0.19445	0.036	B	0.15870	0.014	T	0.35699	-0.9778	10	0.07813	T	0.8	.	6.9516	0.24548	0.0:0.8779:0.0:0.1221	.	52	Q96D09	GASP2_HUMAN	S	52	ENSP00000437872:T52S;ENSP00000437394:T52S;ENSP00000339057:T52S	ENSP00000339057:T52S	T	+	2	0	GPRASP2	101856608	0.007000	0.16637	0.996000	0.52242	0.821000	0.46438	0.285000	0.18883	2.326000	0.78906	0.529000	0.55759	ACT	-	NULL		0.567	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	protein_coding	OTTHUMT00000057626.2	C	NM_138437		101856608	+1	no_errors	NM_001004051	genbank	human	validated	54_36p	missense	SNP	0.318	G
CINP	51550	genome.wustl.edu	37	14	102822194	102822194	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr14:102822194A>T	ENST00000216756.6	-	3	257	c.217T>A	c.(217-219)Tcg>Acg	p.S73T	CINP_ENST00000541568.2_Missense_Mutation_p.S73T|snoU13_ENST00000458912.1_RNA|CINP_ENST00000536961.2_Missense_Mutation_p.S88T	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	73					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TTTTCCTTCGAGGCTGGGCTG	0.398																																																0			14											134.0	110.0	118.0					14																	102822194		2203	4300	6503	101891947	SO:0001583	missense	51550			AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.217T>A	14.37:g.102822194A>T	ENSP00000216756:p.Ser73Thr		101891947	F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	NULL	p.S73T	ENST00000216756.6	37	c.217	CCDS9972.1	14	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940281	0.34283	.	.	ENSG00000100865	ENST00000216756;ENST00000536961;ENST00000541568	T;T	0.48201	0.84;0.82	6.06	-0.471	0.12119	.	0.867992	0.10496	N	0.667880	T	0.35451	0.0932	L	0.50919	1.6	0.09310	N	1	P	0.43352	0.804	B	0.39217	0.294	T	0.20140	-1.0284	10	0.20519	T	0.43	0.065	6.5399	0.22375	0.4834:0.3824:0.1342:0.0	.	73	Q9BW66	CINP_HUMAN	T	73;88;73	ENSP00000216756:S73T;ENSP00000442057:S88T	ENSP00000216756:S73T	S	-	1	0	CINP	101891947	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.721000	0.38032	-0.297000	0.08934	-2.262000	0.00279	TCG	-	NULL		0.398	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CINP	protein_coding	OTTHUMT00000415055.1	A	NM_032630		101891947	-1	no_errors	NM_032630	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
MURC	347273	genome.wustl.edu	37	9	103348453	103348453	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:103348453G>A	ENST00000307584.5	+	2	880	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTTAAGATGCGCAGCCTCAGG	0.537																																																0			9											102.0	107.0	105.0					9																	103348453		2203	4300	6503	102388274	SO:0001583	missense	347273			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.815G>A	9.37:g.103348453G>A	ENSP00000418668:p.Arg272His		102388274	B1PRL3|B4DT88	Missense_Mutation	SNP	NULL	p.R272H	ENST00000307584.5	37	c.815	CCDS35083.1	9	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046415	0.36085	.	.	ENSG00000170681	ENST00000307584	T	0.63580	-0.05	5.44	-0.384	0.12474	.	0.409242	0.26109	N	0.026293	T	0.32941	0.0846	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.11084	-1.0602	10	0.41790	T	0.15	0.0652	4.1553	0.10258	0.3603:0.3259:0.3139:0.0	.	272	Q5BKX8	MURC_HUMAN	H	272	ENSP00000418668:R272H	ENSP00000418668:R272H	R	+	2	0	MURC	102388274	0.021000	0.18746	0.078000	0.20375	0.739000	0.42172	0.125000	0.15749	0.074000	0.16767	0.561000	0.74099	CGC	-	NULL		0.537	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	protein_coding	OTTHUMT00000053419.2	G	NM_001018116		102388274	+1	no_errors	NM_001018116	genbank	human	validated	54_36p	missense	SNP	0.476	A
LAMB1	3912	genome.wustl.edu	37	7	107571914	107571914	+	Missense_Mutation	SNP	G	G	C	rs143261373		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:107571914G>C	ENST00000222399.6	-	29	4654	c.4424C>G	c.(4423-4425)gCa>gGa	p.A1475G	LAMB1_ENST00000393561.1_Missense_Mutation_p.A1499G|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1475	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ACTTTGTTTTGCCTCATCTGC	0.373																																																0			7											163.0	157.0	159.0					7																	107571914		2203	4300	6503	107359150	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4424C>G	7.37:g.107571914G>C	ENSP00000222399:p.Ala1475Gly		107359150	Q14D91	Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin	p.A1475G	ENST00000222399.6	37	c.4424	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.264338	0.95399	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.36340	1.27;1.26	5.62	5.62	0.85841	.	.	.	.	.	T	0.65312	0.2679	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.68405	-0.5417	9	0.72032	D	0.01	.	19.6753	0.95930	0.0:0.0:1.0:0.0	.	1475;1499	P07942;G3XAI2	LAMB1_HUMAN;.	G	1499;1475	ENSP00000377191:A1499G;ENSP00000222399:A1475G	ENSP00000222399:A1475G	A	-	2	0	LAMB1	107359150	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.400000	0.97290	2.648000	0.89879	0.563000	0.77884	GCA	-	NULL		0.373	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	G	NM_002291		107359150	-1	no_errors	NM_002291	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ADRA2A	150	genome.wustl.edu	37	10	112838889	112838889	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:112838889G>T	ENST00000280155.2	+	1	2100	c.1135G>T	c.(1135-1137)Ggg>Tgg	p.G379W		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	364					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCGCTGGCGCGGGCGGCAGAA	0.726																																					Esophageal Squamous(173;605 2658 7278 49362)											0			10											73.0	61.0	65.0					10																	112838889		2202	4299	6501	112828879	SO:0001583	missense	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1135G>T	10.37:g.112838889G>T	ENSP00000280155:p.Gly379Trp		112828879	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.G364W	ENST00000280155.2	37	c.1090	CCDS7569.2	10	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246731	0.59103	.	.	ENSG00000150594	ENST00000280155	T	0.44083	0.93	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.710624	0.12830	U	0.435694	T	0.53045	0.1772	L	0.33753	1.03	0.48571	D	0.999674	D	0.89917	1.0	D	0.91635	0.999	T	0.50233	-0.8852	10	0.44086	T	0.13	.	13.7658	0.62995	0.0:0.0:1.0:0.0	.	364	P08913	ADA2A_HUMAN	W	379	ENSP00000280155:G379W	ENSP00000280155:G379W	G	+	1	0	ADRA2A	112828879	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.252000	0.58785	1.932000	0.55993	0.462000	0.41574	GGG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.726	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	protein_coding	OTTHUMT00000050372.2	G	NM_000681		112828879	+1	no_errors	NM_000681	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CD101	9398	genome.wustl.edu	37	1	117552471	117552471	+	Splice_Site	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:117552471G>A	ENST00000256652.4	+	2	101		c.e2-1		CD101_ENST00000369470.1_Splice_Site	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule						cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTACTTACAAGCTAAGCTCAG	0.423																																																0			1											70.0	72.0	71.0					1																	117552471		2203	4300	6503	117353994	SO:0001630	splice_region_variant	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.44-1G>A	1.37:g.117552471G>A			117353994	Q15856	Splice_Site	SNP	-	e2-1	ENST00000256652.4	37	c.44-1	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826347	0.32329	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD101	117353994	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	5.316000	0.65815	2.733000	0.93635	0.655000	0.94253	.	-	-		0.423	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF2	protein_coding	OTTHUMT00000033274.1	G	NM_004258	Intron	117353994	+1	no_errors	NM_004258	genbank	human	validated	54_36p	splice_site	SNP	0.858	A
C5	727	genome.wustl.edu	37	9	123744121	123744121	+	Splice_Site	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:123744121C>T	ENST00000223642.1	-	27	3516		c.e27+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTCTTACTTACCACCAGGGGG	0.413																																																0			9											73.0	69.0	71.0					9																	123744121		2203	4300	6503	122783942	SO:0001630	splice_region_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3486+1G>A	9.37:g.123744121C>T			122783942	Q14CJ0|Q27I61	Splice_Site	SNP	-	e27+1	ENST00000223642.1	37	c.3486+1	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	9.605	1.129692	0.21041	.	.	ENSG00000106804	ENST00000223642	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3824	0.87408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5	122783942	1.000000	0.71417	0.991000	0.47740	0.049000	0.14656	5.001000	0.63946	2.413000	0.81919	0.644000	0.83932	.	-	-		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	protein_coding	OTTHUMT00000053844.1	C	NM_001735	Intron	122783942	-1	no_errors	NM_001735	genbank	human	reviewed	54_36p	splice_site	SNP	0.993	T
CPXM2	119587	genome.wustl.edu	37	10	125514210	125514210	+	Silent	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr10:125514210G>A	ENST00000241305.3	-	13	2140	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	662					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGCCTTCTACGGAGATAATGG	0.438																																																0			10											365.0	308.0	328.0					10																	125514210		2203	4300	6503	125504200	SO:0001819	synonymous_variant	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1986C>T	10.37:g.125514210G>A			125504200	B4E3Q2	Silent	SNP	superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain	p.S662	ENST00000241305.3	37	c.1986	CCDS7637.1	10																																																																																			-	HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain		0.438	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	protein_coding	OTTHUMT00000050853.1	G	NM_198148		125504200	-1	no_errors	NM_198148	genbank	human	validated	54_36p	silent	SNP	0.632	A
OPN1SW	611	genome.wustl.edu	37	7	128415517	128415517	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr7:128415517C>T	ENST00000249389.2	-	1	327	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	110					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGAAGCCCTCCAAAGCACAA	0.552																																																0			7											130.0	133.0	132.0					7																	128415517		2203	4300	6503	128202753	SO:0001583	missense	611			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.328G>A	7.37:g.128415517C>T	ENSP00000249389:p.Glu110Lys		128202753	Q13877	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN	p.E110K	ENST00000249389.2	37	c.328	CCDS5806.1	7	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918989	0.73098	.	.	ENSG00000128617	ENST00000249389	T	0.37411	1.2	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.055783	0.64402	D	0.000001	T	0.66218	0.2767	H	0.94808	3.585	0.53688	D	0.999975	D	0.59357	0.985	P	0.62491	0.903	T	0.75886	-0.3159	10	0.87932	D	0	.	12.0179	0.53324	0.0:0.9167:0.0:0.0833	.	110	P03999	OPSB_HUMAN	K	110	ENSP00000249389:E110K	ENSP00000249389:E110K	E	-	1	0	OPN1SW	128202753	1.000000	0.71417	0.926000	0.36857	0.323000	0.28346	7.625000	0.83145	1.493000	0.48517	0.655000	0.94253	GAG	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	protein_coding	OTTHUMT00000350655.1	C	NM_001708		128202753	-1	no_errors	NM_001708	genbank	human	reviewed	54_36p	missense	SNP	0.997	T
ATP2C1	27032	genome.wustl.edu	37	3	130718397	130718397	+	Silent	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:130718397T>C	ENST00000510168.1	+	27	3073	c.2523T>C	c.(2521-2523)aaT>aaC	p.N841N	ATP2C1_ENST00000533801.2_Silent_p.N836N|ATP2C1_ENST00000507488.2_Silent_p.N825N|ATP2C1_ENST00000504381.1_Silent_p.N786N|ATP2C1_ENST00000359644.3_Silent_p.N841N|ATP2C1_ENST00000328560.8_Silent_p.N841N|ATP2C1_ENST00000508532.1_Silent_p.N841N|ATP2C1_ENST00000505330.1_Silent_p.N825N|ATP2C1_ENST00000428331.2_Silent_p.N841N|ATP2C1_ENST00000513801.1_Silent_p.N825N|ATP2C1_ENST00000422190.2_Silent_p.N841N|ATP2C1_ENST00000393221.4_Silent_p.N875N|ATP2C1_ENST00000504948.1_Silent_p.N825N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	841					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTGCAGTAATAGAATGTTTT	0.383									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)											0			3											126.0	121.0	123.0					3																	130718397		2203	4300	6503	132201087	SO:0001819	synonymous_variant	27032	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2523T>C	3.37:g.130718397T>C			132201087	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C	p.N841	ENST00000510168.1	37	c.2523	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	T	4.706	0.131310	0.08981	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.91	-0.378	0.12497	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52779	-0.8530	4	.	.	.	.	10.5305	0.44973	0.0:0.5934:0.0:0.4066	.	.	.	.	T	795	.	.	I	+	2	0	ATP2C1	132201087	1.000000	0.71417	0.510000	0.27712	0.558000	0.35554	2.078000	0.41567	-0.063000	0.13065	-0.912000	0.02778	ATA	-	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_C		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	protein_coding	OTTHUMT00000356648.2	T	NM_001001486		132201087	+1	no_errors	NM_001001486	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
OC90	729330	genome.wustl.edu	37	8	133051071	133051071	+	Silent	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:133051071G>T	ENST00000443356.2	-	8	680	c.594C>A	c.(592-594)acC>acA	p.T198T	OC90_ENST00000254627.3_Silent_p.T198T|OC90_ENST00000262283.5_Silent_p.T394T|OC90_ENST00000603859.1_Silent_p.T198T			Q02509	OC90_HUMAN	otoconin 90	198					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTCCTTGATGGTTGTCTCTG	0.512																																																0			8											89.0	92.0	91.0					8																	133051071		1903	4116	6019	133120253	SO:0001819	synonymous_variant	729330			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.594C>A	8.37:g.133051071G>T			133120253	B4DNG8	Silent	SNP	HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2,HMMPfam_Phospholip_A2_1,PatternScan_PA2_HIS,PatternScan_PA2_ASP	p.T182	ENST00000443356.2	37	c.546		8																																																																																			-	superfamily_Phospholipase A2 PLA2		0.512	OC90-201	KNOWN	basic	protein_coding	OC90	protein_coding		G	NM_001080399		133120253	-1	no_errors	NM_001080399	genbank	human	validated	54_36p	silent	SNP	0.504	T
ZFAT	57623	genome.wustl.edu	37	8	135613935	135613935	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:135613935G>A	ENST00000377838.3	-	6	2201	c.2027C>T	c.(2026-2028)tCa>tTa	p.S676L	ZFAT_ENST00000523399.1_Missense_Mutation_p.S614L|ZFAT_ENST00000520727.1_Missense_Mutation_p.S664L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S664L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S664L|ZFAT_ENST00000429442.2_Missense_Mutation_p.S664L|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	676					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTGGGTTTGACCTGAGACA	0.607																																																0			8											59.0	66.0	64.0					8																	135613935		2029	4193	6222	135683117	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2027C>T	8.37:g.135613935G>A	ENSP00000367069:p.Ser676Leu		135683117	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_SUGAR_TRANSPORT_1	p.S676L	ENST00000377838.3	37	c.2027	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921633	0.17982	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09445	3.05;2.98;2.99;2.98;2.98;2.99	5.0	4.11	0.48088	.	1.127060	0.06574	N	0.749009	T	0.07548	0.0190	N	0.14661	0.345	0.09310	N	1	B;B;P;B	0.38078	0.0;0.001;0.617;0.0	B;B;B;B	0.37144	0.001;0.004;0.242;0.001	T	0.32955	-0.9887	10	0.27785	T	0.31	1.0815	7.4784	0.27390	0.0796:0.0:0.6222:0.2981	.	614;664;664;676	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	664;664;664;676;664;563;614;664	ENSP00000427879:S664L;ENSP00000427831:S664L;ENSP00000394501:S664L;ENSP00000367069:S676L;ENSP00000428483:S664L;ENSP00000429091:S614L	ENSP00000326997:S563L	S	-	2	0	ZFAT	135683117	0.011000	0.17503	0.053000	0.19242	0.523000	0.34469	1.866000	0.39489	1.291000	0.44653	0.561000	0.74099	TCA	-	NULL		0.607	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	protein_coding	OTTHUMT00000378272.1	G	NM_001029939		135683117	-1	no_errors	NM_020863	genbank	human	validated	54_36p	missense	SNP	0.005	A
DARS	1615	genome.wustl.edu	37	2	136743054	136743054	+	5'UTR	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:136743054G>A	ENST00000264161.4	-	0	200				AC093391.2_ENST00000438432.1_RNA|AC093391.2_ENST00000446492.1_RNA|AC093391.2_ENST00000419808.1_RNA|DARS_ENST00000537273.1_5'UTR|AC093391.2_ENST00000444406.1_RNA	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase						aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CACGGAACTGGGCAGTGGACA	0.667																																																0			2											43.0	49.0	47.0					2																	136743054		2202	4300	6502	136459524	SO:0001623	5_prime_UTR_variant	0			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.-16C>T	2.37:g.136743054G>A			136459524	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	NULL	p.G137S	ENST00000264161.4	37	c.409	CCDS2180.1	2																																																																																			-	NULL		0.667	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131316	protein_coding	OTTHUMT00000254660.5	G	NM_001349		136459524	+1	no_errors	XM_001717835	genbank	human	model	54_36p	missense	SNP	0.004	A
MAGEA13P	139363	genome.wustl.edu	37	X	137565810	137565810	+	IGR	SNP	C	C	A	rs184321224		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:137565810C>A								RN7SKP31 (86023 upstream) : RP6-27P15.2 (143427 downstream)																							GGGAGTGATGCCAGTTCCTTT	0.488													C|||	3	0.000794702	0.0015	0.0014	3775	,	,		13401	0.0		0.0	False		,,,				2504	0.0															0			X																																								137393476	SO:0001628	intergenic_variant	0																															X.37:g.137565810C>A			137393476		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.488					LOC139363			C			137393476	+1	no_errors	XR_040400	genbank	human	model	54_36p	rna	SNP	0.002	A
CYP11B2	1585	genome.wustl.edu	37	8	143999097	143999097	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:143999097G>C	ENST00000323110.2	-	1	162	c.160C>G	c.(160-162)Cag>Gag	p.Q54E		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	54					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CTCCAGATCTGCAGCAGCCTC	0.642									Familial Hyperaldosteronism type I																																							0			8											82.0	73.0	76.0					8																	143999097		2203	4300	6503	143996099	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.160C>G	8.37:g.143999097G>C	ENSP00000325822:p.Gln54Glu		143996099	B0ZBE4|Q16726	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.Q54E	ENST00000323110.2	37	c.160	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	10.53	1.377125	0.24944	.	.	ENSG00000179142	ENST00000323110	T	0.67698	-0.28	3.48	2.5	0.30297	.	0.412335	0.17541	U	0.170536	T	0.52273	0.1724	L	0.45422	1.42	0.24055	N	0.996035	P	0.36183	0.542	B	0.38755	0.281	T	0.46400	-0.9194	10	0.02654	T	1	.	9.8388	0.40987	0.0:0.0:0.7955:0.2045	.	54	P19099	C11B2_HUMAN	E	54	ENSP00000325822:Q54E	ENSP00000325822:Q54E	Q	-	1	0	CYP11B2	143996099	0.998000	0.40836	0.113000	0.21522	0.068000	0.16541	1.750000	0.38329	1.950000	0.56595	0.655000	0.94253	CAG	-	HMMPfam_p450,superfamily_Cytochrome P450		0.642	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	protein_coding	OTTHUMT00000359904.1	G			143996099	-1	no_errors	NM_000498	genbank	human	reviewed	54_36p	missense	SNP	0.998	C
ZFP41	286128	genome.wustl.edu	37	8	144332294	144332294	+	Missense_Mutation	SNP	G	G	A	rs555329332		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr8:144332294G>A	ENST00000330701.4	+	2	650	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	ZFP41_ENST00000522452.1_Missense_Mutation_p.R94Q|ZFP41_ENST00000520584.1_Missense_Mutation_p.R94Q	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	94					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAGTGTGGGCGGATCTTTAAG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18015	0.0		0.0	False		,,,				2504	0.001															0			8											87.0	88.0	88.0					8																	144332294		2203	4300	6503	144403669	SO:0001583	missense	286128				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.281G>A	8.37:g.144332294G>A	ENSP00000327427:p.Arg94Gln		144403669	D3DWJ5	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.R94Q	ENST00000330701.4	37	c.281	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472648	0.26423	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.41400	1.0;1.0;1.0	3.38	-0.756	0.11057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	P	0.42692	0.787	B	0.26202	0.067	T	0.15925	-1.0420	9	0.87932	D	0	-7.691	3.0301	0.06104	0.4457:0.0:0.3582:0.1961	.	94	Q8N8Y5	ZFP41_HUMAN	Q	94	ENSP00000430465:R94Q;ENSP00000327427:R94Q;ENSP00000428966:R94Q	ENSP00000327427:R94Q	R	+	2	0	ZFP41	144403669	0.005000	0.15991	0.000000	0.03702	0.265000	0.26407	2.082000	0.41605	-0.053000	0.13289	0.467000	0.42956	CGG	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.522	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	protein_coding	OTTHUMT00000381114.2	G	NM_173832		144403669	+1	no_errors	NM_173832	genbank	human	provisional	54_36p	missense	SNP	0.906	A
IL9R	3581	genome.wustl.edu	37	X	155240027	155240027	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chrX:155240027A>G	ENST00000244174.5	+	9	1698	c.1519A>G	c.(1519-1521)Atg>Gtg	p.M507V	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.M486V|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	507					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTCCAGGGCATGTTGCTCCC	0.572																																																0			X											1.0	1.0	1.0					X																	155240027		486	1569	2055	154893221	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1519A>G	X.37:g.155240027A>G	ENSP00000244174:p.Met507Val		154893221	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_FN_III-like,PatternScan_HEMATOPO_REC_S_F1	p.M507V	ENST00000244174.5	37	c.1519	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	a	1.651	-0.514011	0.04200	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.09817	2.94;2.94	1.44	-2.88	0.05682	.	0.926421	0.08771	N	0.896204	T	0.07954	0.0199	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36114	-0.9761	9	0.87932	D	0	.	6.2175	0.20663	0.3833:0.0:0.6167:0.0	.	507	Q01113	IL9R_HUMAN	V	507;486	ENSP00000244174:M507V;ENSP00000388918:M486V	ENSP00000244174:M507V	M	+	1	0	IL9R	154893221	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.778000	0.01778	-1.195000	0.02680	0.238000	0.17879	ATG	-	NULL		0.572	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	protein_coding	OTTHUMT00000058981.1	A	NM_002186		154893221	+1	no_errors	NM_002186	genbank	human	reviewed	54_36p	missense	SNP	0.001	G
LPAL2	80350	genome.wustl.edu	37	6	160921860	160921860	+	RNA	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:160921860A>G	ENST00000335388.5	-	0	278					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTGGCGTCATAGATGACCAAG	0.473																																																0			6											254.0	261.0	259.0					6																	160921860		2203	4300	6503	160841850			80350			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160921860A>G			160841850	E1P5B4	Silent	SNP	superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1	p.S54	ENST00000335388.5	37	c.162		6																																																																																			-	superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle		0.473	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	pseudogene	OTTHUMT00000042950.1	A	NM_024492		160841850	-1	no_errors	NM_024492	genbank	human	validated	54_36p	silent	SNP	0.000	G
DPP4	1803	genome.wustl.edu	37	2	162891749	162891749	+	Silent	SNP	G	G	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:162891749G>A	ENST00000360534.3	-	9	1259	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	233					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAATAAGTGGGACTTCTGTGT	0.453																																																0			2											125.0	117.0	120.0					2																	162891749		2203	4300	6503	162599995	SO:0001819	synonymous_variant	1803			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.699C>T	2.37:g.162891749G>A			162599995	Q53TN1	Silent	SNP	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER	p.V233	ENST00000360534.3	37	c.699	CCDS2216.1	2																																																																																			-	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N		0.453	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	protein_coding	OTTHUMT00000255079.2	G			162599995	-1	no_errors	NM_001935	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
OTOL1	131149	genome.wustl.edu	37	3	161221614	161221614	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:161221614C>A	ENST00000327928.4	+	4	1318	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	440	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGCAGGAGACCAAGTCTGGCT	0.463																																																0			3											55.0	54.0	54.0					3																	161221614		1925	4136	6061	162704308	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1318C>A	3.37:g.161221614C>A	ENSP00000330808:p.Gln440Lys		162704308		Missense_Mutation	SNP	HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q	p.Q440K	ENST00000327928.4	37	c.1318	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745986	0.69418	.	.	ENSG00000182447	ENST00000327928	T	0.74421	-0.84	5.35	5.35	0.76521	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	M	0.62723	1.935	0.48632	D	0.999684	P	0.36990	0.577	P	0.44921	0.464	T	0.77259	-0.2654	10	0.39692	T	0.17	.	17.6663	0.88203	0.0:1.0:0.0:0.0	.	440	A6NHN0	OTOL1_HUMAN	K	440	ENSP00000330808:Q440K	ENSP00000330808:Q440K	Q	+	1	0	OTOL1	162704308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.786000	0.55431	2.503000	0.84419	0.563000	0.77884	CAA	-	HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q		0.463	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	protein_coding	OTTHUMT00000353184.1	C	NM_001080440		162704308	+1	no_errors	NM_001080440	genbank	human	predicted	54_36p	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179428789	179428789	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:179428789G>T	ENST00000591111.1	-	276	77371	c.77147C>A	c.(77146-77148)aCa>aAa	p.T25716K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18417K|TTN_ENST00000460472.2_Missense_Mutation_p.T18292K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T27357K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T18484K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24789K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25716	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAGACTTTGTACCACCAAC	0.418																																																0			2											140.0	136.0	138.0					2																	179428789		1858	4110	5968	179137035	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77147C>A	2.37:g.179428789G>T	ENSP00000465570:p.Thr25716Lys		179137035	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.T23338K	ENST00000591111.1	37	c.70013		2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170901	0.38315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75503	0.3858	L	0.43923	1.385	0.58432	D	0.999997	D;D;D;D	0.76494	0.997;0.997;0.997;0.999	D;D;D;D	0.72338	0.939;0.939;0.939;0.977	T	0.75054	-0.3453	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	18292;18417;18484;25716	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24789;18292;18484;18417;18290	ENSP00000343764:T24789K;ENSP00000434586:T18292K;ENSP00000340554:T18484K;ENSP00000352154:T18417K	ENSP00000340554:T18484K	T	-	2	0	TTN	179137035	1.000000	0.71417	0.723000	0.30687	0.995000	0.86356	4.528000	0.60580	2.937000	0.99478	0.650000	0.86243	ACA	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_Fibronectin type III		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179137035	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	0.998	T
TTN	7273	genome.wustl.edu	37	2	179584365	179584365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:179584365C>A	ENST00000591111.1	-	80	23127	c.22903G>T	c.(22903-22905)Gaa>Taa	p.E7635*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.E7952*|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E6708*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13185	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTCATTTCGGCACAGGGG	0.403																																																0			2											168.0	162.0	164.0					2																	179584365		1870	4108	5978	179292610	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22903G>T	2.37:g.179584365C>A	ENSP00000465570:p.Glu7635*		179292610	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.E6708*	ENST00000591111.1	37	c.20122		2	.	.	.	.	.	.	.	.	.	.	C	59	34.459123	0.99982	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	6708	.	ENSP00000343764:E6708X	E	-	1	0	TTN	179292610	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	3.237000	0.51344	2.894000	0.99253	0.655000	0.94253	GAA	-	HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179292610	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	nonsense	SNP	0.998	A
OR2Y1	134083	genome.wustl.edu	37	5	180166789	180166789	+	Silent	SNP	G	G	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr5:180166789G>C	ENST00000307832.2	-	1	310	c.270C>G	c.(268-270)cgC>cgG	p.R90R		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGATGGTGCGGTCCACCC	0.587																																																0			5											75.0	67.0	69.0					5																	180166789		2203	4300	6503	180099395	SO:0001819	synonymous_variant	134083			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.270C>G	5.37:g.180166789G>C			180099395	B9EIP1|Q6IFB1|Q96R16	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R90	ENST00000307832.2	37	c.270	CCDS34323.1	5																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Y1	protein_coding	OTTHUMT00000368059.2	G	XM_068682		180099395	-1	no_errors	NM_001001657	genbank	human	provisional	54_36p	silent	SNP	0.000	C
DGKG	1608	genome.wustl.edu	37	3	185986597	185986597	+	Missense_Mutation	SNP	C	C	T	rs148805735		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:185986597C>T	ENST00000265022.3	-	12	1648	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.R370Q	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	370			R -> W (in dbSNP:rs3213770).		blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CACCGTCATCCGGCACCACAC	0.602																																																0			3						C	GLN/ARG,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	52.0	56.0		1109,,1109	4.1	1.0	3	dbSNP_134	56	0,8600		0,0,4300	no	missense,intron,missense	DGKG	NM_001080744.1,NM_001080745.1,NM_001346.2	43,,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign	370/767,,370/792	185986597	1,13005	2203	4300	6503	187469291	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1109G>A	3.37:g.185986597C>T	ENSP00000265022:p.Arg370Gln		187469291	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045	p.R370Q	ENST00000265022.3	37	c.1109	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478745	0.44044	2.27E-4	0.0	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84146	-1.81;-1.81;-1.81	5.16	4.06	0.47325	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.146062	0.47093	D	0.000249	T	0.63141	0.2486	N	0.11651	0.15	0.80722	D	1	B;B	0.17667	0.019;0.023	B;B	0.17722	0.019;0.003	T	0.58787	-0.7575	10	0.02654	T	1	.	4.5792	0.12250	0.0:0.7042:0.0:0.2958	.	370;370	P49619-2;P49619	.;DGKG_HUMAN	Q	370;370;121	ENSP00000265022:R370Q;ENSP00000339777:R370Q;ENSP00000395526:R121Q	ENSP00000265022:R370Q	R	-	2	0	DGKG	187469291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.774000	0.62339	2.590000	0.87494	0.563000	0.77884	CGG	-	superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1		0.602	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	protein_coding	OTTHUMT00000344800.3	C			187469291	-1	no_errors	NM_001346	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MUC4	4585	genome.wustl.edu	37	3	195501156	195501156	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:195501156C>T	ENST00000346145.4	-	3	295	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	MUC4_ENST00000463781.3_Missense_Mutation_p.G4322R|MUC4_ENST00000475231.1_Missense_Mutation_p.G4322R|MUC4_ENST00000349607.4_Missense_Mutation_p.G35R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1079					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGCCTGCCCCATAGGGGAAG	0.637																																																0			3											38.0	43.0	41.0					3																	195501156		2203	4299	6502	196986790	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.256G>A	3.37:g.195501156C>T	ENSP00000304207:p.Gly86Arg		196986790	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	HMMSmart_SM00539,HMMPfam_NIDO,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00723,HMMPfam_AMOP,HMMSmart_SM00216,HMMPfam_VWD,PatternScan_EGF_1,HMMSmart_SM00181,superfamily_EGF/Laminin	p.G1074R	ENST00000346145.4	37	c.3220	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593169	0.46214	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.68479	-0.33;-0.01;-0.02;0.4	5.36	5.36	0.76844	.	0.000000	0.48767	D	0.000175	T	0.79329	0.4427	M	0.74258	2.255	0.29943	N	0.820862	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.988;0.982;0.995;0.995	T	0.77835	-0.2440	10	0.87932	D	0	-12.7459	10.1448	0.42758	0.0:0.9092:0.0:0.0908	.	4194;1079;35;86	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	R	35;86;4322;4322;1048	ENSP00000338109:G35R;ENSP00000304207:G86R;ENSP00000417498:G4322R;ENSP00000420243:G4322R	ENSP00000304207:G86R	G	-	1	0	MUC4	196986790	0.614000	0.27017	0.260000	0.24451	0.034000	0.12701	2.628000	0.46477	2.512000	0.84698	0.638000	0.83543	GGG	-	NULL		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000341862.1	C	NM_018406		196986790	-1	no_errors	NM_018406	genbank	human	reviewed	54_36p	missense	SNP	0.926	T
TFRC	7037	genome.wustl.edu	37	3	195785486	195785486	+	Silent	SNP	A	A	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:195785486A>C	ENST00000360110.4	-	15	1723	c.1554T>G	c.(1552-1554)acT>acG	p.T518T	TFRC_ENST00000392396.3_Silent_p.T518T|TFRC_ENST00000535031.1_Silent_p.T236T|TFRC_ENST00000420415.1_Silent_p.T437T|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	518					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	GAAATTGCCCAGTAACCGGAT	0.353			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	0			3											129.0	128.0	128.0					3																	195785486		2203	4300	6503	197269883	SO:0001819	synonymous_variant	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1554T>G	3.37:g.195785486A>C			197269883	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	superfamily_Zn-dependent exopeptidases,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer	p.T518	ENST00000360110.4	37	c.1554	CCDS3312.1	3																																																																																			-	superfamily_Zn-dependent exopeptidases		0.353	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	protein_coding	OTTHUMT00000341346.1	A			197269883	-1	no_errors	NM_003234	genbank	human	validated	54_36p	silent	SNP	0.004	C
SLC23A3	151295	genome.wustl.edu	37	2	220034329	220034329	+	Silent	SNP	T	T	C			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:220034329T>C	ENST00000409878.3	-	2	266	c.234A>G	c.(232-234)ggA>ggG	p.G78G	SLC23A3_ENST00000396775.3_Silent_p.G20G|SLC23A3_ENST00000295738.7_Silent_p.G78G|SLC23A3_ENST00000455516.2_Silent_p.G78G	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	78					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTAAGAGAGTCCTCCTGGGG	0.562																																																0			2											78.0	92.0	88.0					2																	220034329		2017	4186	6203	219742573	SO:0001819	synonymous_variant	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.234A>G	2.37:g.220034329T>C			219742573	B7Z512|Q2PYN6|Q96NA6	Silent	SNP	HMMPfam_Xan_ur_permease	p.G78	ENST00000409878.3	37	c.234	CCDS46518.1	2																																																																																			-	HMMPfam_Xan_ur_permease		0.562	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	protein_coding	OTTHUMT00000336331.2	T	NM_144712		219742573	-1	no_errors	NM_144712	genbank	human	validated	54_36p	silent	SNP	0.235	C
MIA3	375056	genome.wustl.edu	37	1	222803200	222803200	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:222803200C>T	ENST00000344922.5	+	4	2663	c.2638C>T	c.(2638-2640)Cat>Tat	p.H880Y	MIA3_ENST00000344441.6_Missense_Mutation_p.H880Y|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	880					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAAAGAGGACCATGAGAACAC	0.493																																																0			1											35.0	35.0	35.0					1																	222803200		1921	4128	6049	220869823	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2638C>T	1.37:g.222803200C>T	ENSP00000340900:p.His880Tyr		220869823	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	superfamily_SH3-domain,HMMPfam_SH3_2	p.H880Y	ENST00000344922.5	37	c.2638	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.93|10.93	1.489680|1.489680	0.26686|0.26686	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.04234|.	3.67;3.67|.	4.81|4.81	1.52|1.52	0.23074|0.23074	.|.	.|.	.|.	.|.	.|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.37141|.	0.28;0.584|.	B;B|.	0.31495|.	0.131;0.089|.	T|T	0.23048|0.23048	-1.0199|-1.0199	9|5	0.05959|.	T|.	0.93|.	.|.	5.1717|5.1717	0.15114|0.15114	0.1319:0.5095:0.2761:0.0825|0.1319:0.5095:0.2761:0.0825	.|.	880;880|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	Y|L	880|462	ENSP00000340900:H880Y;ENSP00000340587:H880Y|.	ENSP00000325973:H880Y|.	H|P	+|+	1|2	0|0	MIA3|MIA3	220869823|220869823	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	0.292000|0.292000	0.19011|0.19011	0.508000|0.508000	0.28173|0.28173	0.457000|0.457000	0.33378|0.33378	CAT|CCA	-	NULL		0.493	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	protein_coding	OTTHUMT00000091489.4	C	NM_198551		220869823	+1	no_errors	NM_198551	genbank	human	validated	54_36p	missense	SNP	0.001	T
DOCK10	55619	genome.wustl.edu	37	2	225639678	225639678	+	Missense_Mutation	SNP	G	G	A	rs527546362		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:225639678G>A	ENST00000258390.7	-	52	6024	c.5957C>T	c.(5956-5958)tCg>tTg	p.S1986L	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1980L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1986	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTCTTGCCCGACAGCGTGAA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20816	0.0		0.001	False		,,,				2504	0.0															0			2											51.0	55.0	54.0					2																	225639678		2103	4226	6329	225347922	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5957C>T	2.37:g.225639678G>A	ENSP00000258390:p.Ser1986Leu		225347922	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto	p.S1986L	ENST00000258390.7	37	c.5957	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502007	0.64298	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.18810	2.19;2.19	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.54663	0.1872	M	0.86502	2.82	0.54753	D	0.999989	D;D;P	0.89917	1.0;0.999;0.628	D;D;B	0.77557	0.99;0.955;0.189	T	0.59768	-0.7392	10	0.59425	D	0.04	.	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1986;1980;648	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	L	1980;1986;493	ENSP00000386694:S1980L;ENSP00000258390:S1986L	ENSP00000258390:S1986L	S	-	2	0	DOCK10	225347922	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	7.809000	0.86057	2.724000	0.93272	0.563000	0.77884	TCG	-	HMMPfam_Ded_cyto		0.567	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	G			225347922	-1	no_errors	NM_014689	genbank	human	validated	54_36p	missense	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228474577	228474577	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:228474577C>G	ENST00000422127.1	+	35	9425	c.9381C>G	c.(9379-9381)tgC>tgG	p.C3127W	OBSCN_ENST00000284548.11_Missense_Mutation_p.C3127W|OBSCN_ENST00000366707.4_Missense_Mutation_p.C246W|OBSCN_ENST00000570156.2_Missense_Mutation_p.C3556W|OBSCN_ENST00000359599.6_Missense_Mutation_p.C1974W|OBSCN_ENST00000366709.4_Missense_Mutation_p.C246W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3127	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCCTGTGTGCTGGACCAAGG	0.652																																																0			1											45.0	52.0	50.0					1																	228474577		2056	4180	6236	226541200	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9381C>G	1.37:g.228474577C>G	ENSP00000409493:p.Cys3127Trp		226541200	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set,HMMSmart_SM00015,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_TYR	p.C3127W	ENST00000422127.1	37	c.9381	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152637	0.38021	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.08	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818338	0.11036	N	0.606703	T	0.70263	0.3204	L	0.39020	1.185	0.43039	D	0.994627	P;P	0.47841	0.901;0.88	D;B	0.66602	0.945;0.267	T	0.67998	-0.5525	10	0.66056	D	0.02	.	4.0153	0.09641	0.1541:0.5881:0.1701:0.0878	.	3127;3127	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	3127;3127;246;246;1974	ENSP00000284548:C3127W;ENSP00000409493:C3127W;ENSP00000355668:C246W;ENSP00000355670:C246W;ENSP00000352613:C1974W	ENSP00000284548:C3127W	C	+	3	2	OBSCN	226541200	0.693000	0.27728	0.926000	0.36857	0.082000	0.17680	0.936000	0.28938	1.368000	0.46115	0.491000	0.48974	TGC	-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843		226541200	+1	no_errors	NM_001098623	genbank	human	reviewed	54_36p	missense	SNP	0.907	G
CAB39	51719	genome.wustl.edu	37	2	231683258	231683258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr2:231683258C>T	ENST00000258418.5	+	9	1294	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	CAB39_ENST00000409788.3_Nonsense_Mutation_p.Q289*|CAB39_ENST00000410084.3_Nonsense_Mutation_p.Q289*	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	289					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TAACAAGACGCAGCCCATCCT	0.522																																																0			2											102.0	79.0	87.0					2																	231683258		2203	4300	6503	231391502	SO:0001587	stop_gained	51719			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.865C>T	2.37:g.231683258C>T	ENSP00000258418:p.Gln289*		231391502	A8K8L7	Nonsense_Mutation	SNP	HMMPfam_Mo25,superfamily_ARM repeat	p.Q289*	ENST00000258418.5	37	c.865	CCDS2478.1	2	.	.	.	.	.	.	.	.	.	.	C	41	9.124642	0.99073	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	.	.	.	5.57	5.57	0.84162	.	0.051375	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	17.0642	0.86555	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000258418:Q289X	Q	+	1	0	CAB39	231391502	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.783000	0.85696	2.622000	0.88805	0.655000	0.94253	CAG	-	HMMPfam_Mo25,superfamily_ARM repeat		0.522	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	protein_coding	OTTHUMT00000256955.2	C	NM_016289		231391502	+1	no_errors	NM_016289	genbank	human	validated	54_36p	nonsense	SNP	0.996	T
ADSS	159	genome.wustl.edu	37	1	244595862	244595862	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:244595862C>G	ENST00000366535.3	-	4	707	c.391G>C	c.(391-393)Gac>Cac	p.D131H		NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TGAGCTCTGTCAGATATAATA	0.264																																																0			1											62.0	70.0	67.0					1																	244595862		2200	4275	6475	242662485	SO:0001583	missense	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.391G>C	1.37:g.244595862C>G	ENSP00000355493:p.Asp131His		242662485		Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_1,PatternScan_ADENYLOSUCCIN_SYN_2	p.D131H	ENST00000366535.3	37	c.391	CCDS1624.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510292	0.85282	.	.	ENSG00000035687	ENST00000366535;ENST00000449326;ENST00000430700	T	0.46063	0.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75499	-0.3296	10	0.87932	D	0	-21.8828	19.5502	0.95314	0.0:1.0:0.0:0.0	.	131	P30520	PURA2_HUMAN	H	131;110;71	ENSP00000355493:D131H	ENSP00000355493:D131H	D	-	1	0	ADSS	242662485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.112000	0.77086	2.792000	0.96026	0.557000	0.71058	GAC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788		0.264	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSS	protein_coding	OTTHUMT00000096697.1	C	NM_001126		242662485	-1	no_errors	NM_001126	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
OR2B11	127623	genome.wustl.edu	37	1	247614820	247614820	+	Silent	SNP	A	A	G			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:247614820A>G	ENST00000318749.6	-	1	488	c.465T>C	c.(463-465)agT>agC	p.S155S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGCCGAAGCCACTGAGCCAGG	0.617																																																0			1											61.0	51.0	54.0					1																	247614820		2203	4300	6503	245681443	SO:0001819	synonymous_variant	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.465T>C	1.37:g.247614820A>G			245681443	B2RP03	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S155	ENST00000318749.6	37	c.465	CCDS31090.1	1																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.617	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B11	protein_coding	OTTHUMT00000097620.1	A	NM_001004492		245681443	-1	no_errors	NM_001004492	genbank	human	provisional	54_36p	silent	SNP	0.515	G
DSP	1832	genome.wustl.edu	37	6	7559595	7559613	+	Frame_Shift_Del	DEL	GTCACCAGTGAATGTTTGG	GTCACCAGTGAATGTTTGG	-	rs199585428		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	GTCACCAGTGAATGTTTGG	GTCACCAGTGAATGTTTGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr6:7559595_7559613delGTCACCAGTGAATGTTTGG	ENST00000379802.3	+	4	900_918	c.559_577delGTCACCAGTGAATGTTTGG	c.(559-579)gtcaccagtgaatgtttggggfs	p.VTSECLG187fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.VTSECLG187fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	187	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CACCAAACATGTCACCAGTGAATGTTTGGGGTGGATGAG	0.557																																																0			6																																								7504612	SO:0001589	frameshift_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.559_577delGTCACCAGTGAATGTTTGG	6.37:g.7559595_7559613delGTCACCAGTGAATGTTTGG	ENSP00000369129:p.Val187fs		7504594	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin	p.V187fs	ENST00000379802.3	37	c.559_577	CCDS4501.1	6																																																																																			(deletion:cds_exon[7504458,7504632])	superfamily_Spectrin repeat,HMMSmart_SM00150		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	protein_coding	OTTHUMT00000039786.2	GTCACCAGTGAATGTTTGG	NM_004415		7504612	+1	no_errors	NM_004415	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.992:0.997:0.997:1.000:1.000:0.998:0.996:0.997:0.996:1.000:0.995:0.836:0.856:0.848:0.653:0.658:0.980:0.990:0.996	-
TP53	7157	genome.wustl.edu	37	17	7578484	7578485	+	Frame_Shift_Ins	INS	-	-	A			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:7578484_7578485insA	ENST00000269305.4	-	5	634_635	c.445_446insT	c.(445-447)tccfs	p.S149fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S149fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	149	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGGGGTGTGGAATCAACCCAC	0.604		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	35	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	upper_aerodigestive_tract(5)|breast(5)|lung(4)|bone(4)|central_nervous_system(3)|skin(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|thyroid(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)|oesophagus(1)	17																																								7519210	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.446dupT	17.37:g.7578486_7578486dupA	ENSP00000269305:p.Ser149fs		7519209	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.S149fs	ENST00000269305.4	37	c.446_445	CCDS11118.1	17																																																																																			-	HMMPfam_P53,superfamily_p53-like transcription factors		0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546		7519210	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.000:0.000	A
RAI1	10743	genome.wustl.edu	37	17	17700127	17700134	+	Frame_Shift_Del	DEL	GCCACAAA	GCCACAAA	-			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	GCCACAAA	GCCACAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:17700127_17700134delGCCACAAA	ENST00000353383.1	+	3	4334_4341	c.3865_3872delGCCACAAA	c.(3865-3873)gccacaaagfs	p.ATK1289fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.ATK1289fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1289					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGCGAGCCTGCCACAAAGCTCCCACCC	0.649																																																0			17																																								17640859	SO:0001589	frameshift_variant	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3865_3872delGCCACAAA	17.37:g.17700127_17700134delGCCACAAA	ENSP00000323074:p.Ala1289fs		17640852	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	HMMSmart_SM00249	p.T1290fs	ENST00000353383.1	37	c.3865_3872	CCDS11188.1	17																																																																																			(deletion:cds_exon[17636988,17642552])	NULL		0.649	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	protein_coding	OTTHUMT00000131775.1	GCCACAAA	NM_030665		17640859	+1	no_errors	NM_030665	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.000:0.001:0.001:0.000:0.000:0.007:0.043:0.053	-
BRCA1	672	genome.wustl.edu	37	17	41244082	41244083	+	Frame_Shift_Ins	INS	-	-	ATCTAACA			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr17:41244082_41244083insATCTAACA	ENST00000357654.3	-	10	3583_3584	c.3465_3466insTGTTAGAT	c.(3463-3468)gatgatfs	p.D1156fs	BRCA1_ENST00000309486.4_Frame_Shift_Ins_p.D860fs|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Ins_p.D1109fs|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Ins_p.D1156fs|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Frame_Shift_Ins_p.D1156fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Ins_p.D1156fs|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1156					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTTCACCATCATCTAACAGGT	0.396			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17																																								38497609	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3458_3465dupTGTTAGAT	17.37:g.41244083_41244090dupATCTAACA	ENSP00000350283:p.Asp1156fs		38497608	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Ins	INS	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain	p.D1155fs	ENST00000357654.3	37	c.3466_3465	CCDS11453.1	17																																																																																			-	NULL		0.396	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	protein_coding	OTTHUMT00000348798.2	-	NM_007294		38497609	-1	no_errors	NM_007294	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.515:0.581	ATCTAACA
FBXW12	285231	genome.wustl.edu	37	3	48419877	48419908	+	Frame_Shift_Del	DEL	ATCTCGCCATCACTATGGATCGGAAAAAAACT	ATCTCGCCATCACTATGGATCGGAAAAAAACT	-	rs79525977|rs565146206|rs577053960|rs6442117|rs372841013	byFrequency	TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	ATCTCGCCATCACTATGGATCGGAAAAAAACT	ATCTCGCCATCACTATGGATCGGAAAAAAACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:48419877_48419908delATCTCGCCATCACTATGGATCGGAAAAAAACT	ENST00000296438.5	+	6	662_693	c.476_507delATCTCGCCATCACTATGGATCGGAAAAAAACT	c.(475-507)catctcgccatcactatggatcggaaaaaaactfs	p.HLAITMDRKKT159fs	RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Frame_Shift_Del_p.HLAITMDRKKT2fs|FBXW12_ENST00000445170.1_Frame_Shift_Del_p.HLAITMDRKKT140fs|FBXW12_ENST00000415155.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	159										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTCAGATGCATCTCGCCATCACTATGGATCGGAAAAAAACTATCAAAGTGT	0.491																																																0			3																																								48394912	SO:0001589	frameshift_variant	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.476_507delATCTCGCCATCACTATGGATCGGAAAAAAACT	3.37:g.48419877_48419908delATCTCGCCATCACTATGGATCGGAAAAAAACT	ENSP00000296438:p.His159fs		48394881	E9PG36|Q494Y9|Q494Z0	Frame_Shift_Del	DEL	PatternScan_WD_REPEATS_1,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383,superfamily_WD40_like	p.L160fs	ENST00000296438.5	37	c.476_507	CCDS2764.1	3																																																																																			(deletion:cds_exon[48394811,48395020])	superfamily_WD40_like		0.491	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	protein_coding	OTTHUMT00000257505.1	ATCTCGCCATCACTATGGATCGGAAAAAAACT	NM_207102		48394912	+1	no_errors	NM_207102	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.001:0.000:0.000:0.000:0.000:0.003:0.000:0.000:0.000:0.001:0.001:0.003:0.003:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.013:0.034:0.100	-
IP6K2	51447	genome.wustl.edu	37	3	48732550	48732564	+	In_Frame_Del	DEL	TCTCAGCAGGGAGGG	TCTCAGCAGGGAGGG	-	rs34911461		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	TCTCAGCAGGGAGGG	TCTCAGCAGGGAGGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:48732550_48732564delTCTCAGCAGGGAGGG	ENST00000328631.5	-	2	384_398	c.161_175delCCCTCCCTGCTGAGA	c.(160-177)accctccctgctgagatg>atg	p.TLPAE54del	IP6K2_ENST00000446860.1_In_Frame_Del_p.TLPAE112del|IP6K2_ENST00000450045.1_In_Frame_Del_p.TLPAE108del|IP6K2_ENST00000453202.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000417896.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000431721.2_In_Frame_Del_p.TLPAE109del|IP6K2_ENST00000443964.1_In_Frame_Del_p.TLPAE113del|IP6K2_ENST00000413298.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000449610.1_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000340879.4_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000432678.2_In_Frame_Del_p.TLPAE54del|IP6K2_ENST00000436134.1_5'UTR	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	54					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AATTTGCGCATCTCAGCAGGGAGGGTCTCGTAGAA	0.591																																																0			3																																								48707568	SO:0001651	inframe_deletion	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.161_175delCCCTCCCTGCTGAGA	3.37:g.48732550_48732564delTCTCAGCAGGGAGGG	ENSP00000331103:p.Thr54_Glu58del		48707554	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	In_Frame_Del	DEL	superfamily_SAICAR synthase-like,HMMPfam_IPK	p.TLPAE54in_frame_del	ENST00000328631.5	37	c.175_161	CCDS2777.1	3																																																																																			(deletion:cds_exon[48707527,48707728])	superfamily_SAICAR synthase-like		0.591	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	protein_coding	OTTHUMT00000257521.2	TCTCAGCAGGGAGGG	NM_016291		48707568	-1	no_errors	NM_001005909	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:0.956:0.978:0.946:0.900:1.000:1.000:1.000:1.000:1.000:0.995:1.000	-
IP6K2	51447	genome.wustl.edu	37	3	48732676	48732676	+	Frame_Shift_Del	DEL	C	C	-	rs57768168	byFrequency	TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr3:48732676delC	ENST00000328631.5	-	2	272	c.49delG	c.(49-51)gtcfs	p.V17fs	IP6K2_ENST00000446860.1_Frame_Shift_Del_p.V75fs|IP6K2_ENST00000450045.1_Frame_Shift_Del_p.V71fs|IP6K2_ENST00000453202.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000417896.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000431721.2_Frame_Shift_Del_p.V72fs|IP6K2_ENST00000443964.1_Frame_Shift_Del_p.V76fs|IP6K2_ENST00000413298.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000449610.1_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000340879.4_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000432678.2_Frame_Shift_Del_p.V17fs|IP6K2_ENST00000436134.1_5'UTR	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	17					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCAGAAGGACGCCTTTGGCG	0.662																																																0			3											55.0	57.0	56.0					3																	48732676		2203	4300	6503	48707680	SO:0001589	frameshift_variant	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.49delG	3.37:g.48732676delC	ENSP00000331103:p.Val17fs		48707680	A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Del	DEL	HMMPfam_IPK,superfamily_SAICAR synthase-like	p.V17fs	ENST00000328631.5	37	c.49	CCDS2777.1	3																																																																																			(deletion:cds_exon[48707527,48707728])	NULL		0.662	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	protein_coding	OTTHUMT00000257521.2	C	NM_016291		48707680	-1	no_errors	NM_001005909	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.998	-
GRIN2D	2906	genome.wustl.edu	37	19	48922827	48922843	+	Splice_Site	DEL	CCTGGCCCCCTGCAGGC	CCTGGCCCCCTGCAGGC	-			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	CCTGGCCCCCTGCAGGC	CCTGGCCCCCTGCAGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr19:48922827_48922843delCCTGGCCCCCTGCAGGC	ENST00000263269.3	+	9	1949_1951	c.1861_1863delCCTGGCCCCCTGCAGGC	c.(1861-1863)cctdel	p.P622fs		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	622					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTT	0.548																																																0			19																																								53614655	SO:0001630	splice_region_variant	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1862-1CCTGGCCCCCTGCAGGC>-	19.37:g.48922827_48922843delCCTGGCCCCCTGCAGGC			53614639		Splice_Site	DEL	-	e8-1	ENST00000263269.3	37	c.1862-15_1862-1	CCDS12719.1	19																																																																																			(deletion:intron[53614429,53614653], cds_exon[53614654,53614883])	-		0.548	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	protein_coding	OTTHUMT00000466121.1	CCTGGCCCCCTGCAGGC		Frame_Shift_Del	53614655	+1	no_errors	NM_000836	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.985:0.991:0.989:0.950:0.509:0.424:0.034:0.033:0.022:0.022:0.025:0.073:0.898:0.999:1.000:0.986:0.968	-
NEXN	91624	genome.wustl.edu	37	1	78383912	78383928	+	Frame_Shift_Del	DEL	TAGAAAAGAGGAAAATA	TAGAAAAGAGGAAAATA	-			TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	TAGAAAAGAGGAAAATA	TAGAAAAGAGGAAAATA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:78383912_78383928delTAGAAAAGAGGAAAATA	ENST00000334785.7	+	5	585_601	c.401_417delTAGAAAAGAGGAAAATA	c.(400-417)ttagaaaagaggaaaatafs	p.LEKRKI134fs	NEXN_ENST00000457030.1_Frame_Shift_Del_p.LEKRKI134fs|NEXN_ENST00000330010.8_Frame_Shift_Del_p.LEKRKI70fs|NEXN_ENST00000294624.8_Frame_Shift_Del_p.LEKRKI134fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CAGGATATGTTAGAAAAGAGGAAAATACAGCGTGAAT	0.378																																																0			1																																								78156516	SO:0001589	frameshift_variant	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.401_417delTAGAAAAGAGGAAAATA	1.37:g.78383912_78383928delTAGAAAAGAGGAAAATA	ENSP00000333938:p.Leu134fs		78156500		Frame_Shift_Del	DEL	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409	p.L134fs	ENST00000334785.7	37	c.401_417	CCDS41351.1	1																																																																																			(deletion:cds_exon[78156398,78156546])	NULL		0.378	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	protein_coding	OTTHUMT00000097549.1	TAGAAAAGAGGAAAATA	NM_144573		78156516	+1	no_errors	NM_144573	genbank	human	validated	54_36p	frame_shift_del	DEL	0.812:0.838:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.945	-
NEXN	91624	genome.wustl.edu	37	1	78383930	78383939	+	Frame_Shift_Del	DEL	AGCGTGAATT	AGCGTGAATT	-	rs536537549		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	AGCGTGAATT	AGCGTGAATT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr1:78383930_78383939delAGCGTGAATT	ENST00000334785.7	+	5	603_612	c.419_428delAGCGTGAATT	c.(418-429)cagcgtgaattafs	p.QREL140fs	NEXN_ENST00000457030.1_Frame_Shift_Del_p.QREL140fs|NEXN_ENST00000330010.8_Frame_Shift_Del_p.QREL76fs|NEXN_ENST00000294624.8_Frame_Shift_Del_p.QREL140fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGGAAAATACAGCGTGAATTAGCAAAAAGG	0.371																																																0			1																																								78156527	SO:0001589	frameshift_variant	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.419_428delAGCGTGAATT	1.37:g.78383930_78383939delAGCGTGAATT	ENSP00000333938:p.Gln140fs		78156518		Frame_Shift_Del	DEL	HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin	p.R141fs	ENST00000334785.7	37	c.419_428	CCDS41351.1	1																																																																																			(deletion:cds_exon[78156398,78156546])	NULL		0.371	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	protein_coding	OTTHUMT00000097549.1	AGCGTGAATT	NM_144573		78156527	+1	no_errors	NM_144573	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:0.999:0.960:1.000:1.000:0.999:0.998:1.000	-
RAPGEF1	2889	genome.wustl.edu	37	9	134501375	134501395	+	In_Frame_Del	DEL	TAAAATCACCCACAAATTCGA	TAAAATCACCCACAAATTCGA	-	rs545727970|rs367643811		TCGA-24-1846-01A-01W-0639-09	TCGA-24-1846-10A-01W-0639-09	TAAAATCACCCACAAATTCGA	TAAAATCACCCACAAATTCGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	1978f4b1-64bb-414a-a514-5714616b5bde	c983f89b-f83f-459e-9343-d653755672b1	g.chr9:134501375_134501395delTAAAATCACCCACAAATTCGA	ENST00000372189.3	-	10	1688_1708	c.1565_1585delTCGAATTTGTGGGTGATTTTA	c.(1564-1587)gtcgaatttgtgggtgattttact>gct	p.522_529VEFVGDFT>A	RAPGEF1_ENST00000372190.3_In_Frame_Del_p.540_547VEFVGDFT>A|RAPGEF1_ENST00000481260.1_5'Flank|RAPGEF1_ENST00000372195.1_In_Frame_Del_p.539_546VEFVGDFT>A	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	522					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCAGGAGCAGTAAAATCACCCACAAATTCGACAGGGGCTGA	0.534																																																0			9																																								133491216	SO:0001651	inframe_deletion	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1565_1585delTCGAATTTGTGGGTGATTTTA	9.37:g.134501375_134501395delTAAAATCACCCACAAATTCGA	ENSP00000361263:p.Val522_Thr529delinsAla		133491196	Q5JUE4|Q8IV73	In_Frame_Del	DEL	superfamily_Ras_GEF,HMMSmart_RasGEFN,HMMPfam_RasGEF_N,HMMSmart_RasGEF,HMMPfam_RasGEF,PatternScan_RASGEF	p.VEFVGDFT540in_frame_delA	ENST00000372189.3	37	c.1639_1619	CCDS48047.1	9																																																																																			(deletion:cds_exon[133491130,133491630])	NULL		0.534	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	protein_coding	OTTHUMT00000054759.2	TAAAATCACCCACAAATTCGA	NM_005312		133491216	-1	no_errors	NM_198679	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.997:0.998:1.000:1.000:0.998:1.000:1.000:0.995:0.995:0.996:0.997:1.000:1.000:1.000:1.000:1.000:0.982:0.987:0.981:0.156:0.212	-
